Exam 2 Flashcards

Question

What is hydrocephalus ex vacuo

Answer 1

Compensatory increase in ventricular volume secondary to a loss of brain parenchyma

Answer 2

Unilateral or asymmetric expansion of a cerebral hemisphere displaces the cingulate gurus under the falx; can lead to compression of anterior cerebral artery

Answer 3

Occurs when medial aspect of temporal lobe is compressed against tentorium; the 3rd cranial n is compromised (leads to pupillary dilation and impairment of ocular movement on side of lesion); post cerebral a can also be compressed (ischemic injury to visual cortex); when herniation large enough, contralateral cerebral peduncle can be compressed resulting in hemiparesis ipsilateral to side of herniation (kernohan notch); often accompanied by secondary hemorrhagic lesions in midbrain and pons (duret hemorrhage; linear flame shaped lesions)

Answer 4

Displacement of cerebellar tonsils through foramen magnum; life threatening

Answer 5

Spina bifida

Answer 6

Motor and sensory in lower extremities and bowel and bladder control issues

Answer 7

Diverticula of malformed brain tissue sentencing through defect in cranium most often in posterior fossa but can occur through cribriform plate (nasal glioma)

Answer 8

All throughout reproductive years (neural tube is formed by day 28)

Answer 9

Malformation of anterior end of neural tube with absence of most of the brain and calvarium; forebrain development is disrupted at day 28 and all that remains is area cerebrovasculosa (flattened remnant of disorganized brain tissue with admired ependymal, choroid plexus, and meningothelial cells); post fossa may be intact

Answer 10

Abnormalities in generation and migration of neurons; if excess cells exit proliferating pool too early, overall generation of neurons is reduced; if too few exit during early rounds, overproduction of neurons; follows 2 paths (radial -> become excitatory; tangential -> become inhibitory)

Answer 11

Reelin (protein) signals to migrating neuroblasts through surface receptor

Answer 12

Fetal alch syndrome, chrom ab, HIV infection in utero; simplification of gyri folding resulting from reduction in number o neurons that reach neurocortex

Answer 13

Malformation characterized by reduction in number of gyri (agryia in extreme cases); type I: smooth surface type II: rough or cobblestones surface; type I is associated with mutations that disrupt signaling for migration and cytoskeetal motor proteins that drive migration; type II caused by geneti. Alterations that disrupt stop signal for migration (mutation in enzyme that places sugar onto migration proteins)

Answer 14

Small numerous irregularly formed cerebral convolutions; induced by local tissue injury at the end of migration; genetic forms are bilateral and symmetric

Answer 15

Group of migrational disorders commonly associated with epilepsy; presence of neurons in inappropriate locations along pathway of migration; ie: along ventricular surface (never leave place of birth); caused by mutations in gene encoding filamin A (actin-binding protein responsible for assembly of mesh work of filaments) on X chromosome -> male lethality

Answer 16

In males: lissenephaly | Females: subcortical band heterotopias

Answer 17

Malformations characterized by incomplete separation of cerebral hemispheres; severe: midline facial abnormalities (Cyclopia); less severe: arrhinencephaly (absence of olfactory n); assoc with trisomy 13; mutations in genes that encode SHH pathway cause this as well

Answer 18

Agenesis of corpus callosum; misshapen lateral ventricles; associated with mental retardation

Answer 19

(Chiari malformation type II); small posterior fossa, misshapen midline cerebellum with downward extension of remission through foramen magnum; hydrocephalus and lumbar myelomeningocele; associated change include audial displacement of medulla, malformation of tectum, aqueductal stenosis, cerebral heterotopias, hydromyelia

Answer 20

Less severe; low lying cerebellar tonsils end down into vertebral canal; silent or symptomatic; corrected

Answer 21

Enlarged posterior fossa; vermis is absent or rudimentary in anterior portion, in its place is cyst lined by ependyma (expanded roofless 4th ventricle in absence of normally formed vermis); dysphasia of brainstem nuclei commonly found

Answer 22

Hypoplasia of cerebellar vermis with elongation of superior cerebellar peduncles and altered shape of brainstem; *molar tooth sign; caused by mutations affecting genes that encode cilium

Answer 23

Hydro: expansion of ependyma-lined central canal of cord Synrigomyelia: fluid filled left like cavity in inner portion of cord Bulbia: if extends into brainstem

Answer 24

Destruction of adjacent gray and white matter surrounded by relative lions is; manifests in second or third decade; loss of pain and temp in UE (anterior spinal commisure)

Answer 25

Intraparenchymal hemorrhage within germinal matrix near junction of thalamus and caudate; can lead to hydrocephalus

Answer 26

Infarcts in supratentorial periventricular white matter (in premature infants); *chalky yellow plaques consisting of white matter necrosis and calcification; when both grey and white matter involved -> multicystic encephalopathy (cystic lesions develop)

Answer 27

Depths of sulci -> leads to thinned-out gliotic gyri called ulegyria; abberant and irregular myelinization gives rise to marble like appearance of deep nuclei called status marmoratus; lesions in caudate, putamen, and thalamus so movement disorders (choreoathetosis) are common

Answer 28

Where bone is displaced into cranial cavity by distance greater than thickness of the bone

Answer 29

Lower cranial n damage, presence of orbital or mastoid hematoma; typically follows impact to occipital or sides of head; meningitis can follow

Answer 30

Fractures that cross sutures

Answer 31

Contusions and lacerations

Answer 32

Crests of gyri

Answer 33

Frontal lobes along orbital ridges and temporal lobes; other sites are less common unless adjacent to a skull fracture (fracture contusions)

Answer 34

If head is in motion at time of trauma; if immobile, only see coup

Answer 35

Avulsion of pons from medulla causing instant death

Answer 36

Wedge shaped with broad base lying against surface of point of impact; on histo, morphological evidence of neuronal injury takes 24 hours; axonal swelling develop near or far

Answer 37

Depressed, retracted, yelling brown patches involving crest of gyri most commonly on countrecoup side (inferior frontal cortex, temporal and occipial poles); referred to as plaque Jaune *can become epileptic Foci; in old contusions, gliosis and residual hemosiderin macrophages predominate

Answer 38

Diffuse axonal injury *even in absence of cerebral contusions; characterized by asymmetric axonal swellings within hours of injury; best demonstrated with silver impregnating or immunoperoxidase stain (for a-synuclein); increased number of microglia seen and degeneration of involved fiber tracts

Answer 39

AV fistula

Answer 40

Vascular abnormalities (aV fistula or aneurysm); sudden onset of severe headache with rapid neuro deterioration

Answer 41

Trauma (frontal and temp tips, orbitofrontal surface), hemorrhagic conversion of ischemic infarction (petechial hem), cerebral amyloid angiopathy (lobar hem.), HTN (centered in deep white matter, thalamus, basal ganglia, or brainstem), tumors (high grade gliomas or Mets - melanoma, choriocarcinoma, renal cell carcinoma)

Answer 42

Collection of freshly clotted blood without extension into sulci; underlying brain is flattened and subarachnoid space is clear; usually self-limited and broken down via: Lysis of clot (1 wk), growth of fibroblasts from rural surface into hematoma (week 2) and development of hyalinized connective tissue (1-3 months); typically adhered to inner surface of dura and does not touch aranchnoid

Answer 43

Due to obstruction of CSF resorption from hemorrhage into subarachnoid spaces

Answer 44

Dementia pugilistica; cementing illness that develops after repeated head trauma; brains are atrophic with enlarged ventricles and show accumulation of tau containing neurofibrillary tangles involving superficial frontal and temporal lobe cortex; repeated concussions

Answer 45

Para: thoracic Quad: cervical

Answer 46

Embolism rather than thrombus

Answer 47

At risk area betwee necrotic tissue and normal brain; can be rescued with anti-apoptotic interventions

Answer 48

Cardiac arrest, shock and severe hypotension

Answer 49

Neurons - mostly in the pyramidal layer of hippocampus (especially CA1 - Sommer sector), cerebellar purkinje cells, and pyramidal neurons in cerebral cortex

Answer 50

Sickle shaped band of necrosis over cerebral convexity lateral to the inter hemispheric tissue

Answer 51

Edema - gyri widen and narrowing of sulci; poor demarcation btw white and gray matter; early changes: red neurons; subacute changes: 24-2wks after, include necrosis influx of macrophages, vascular proliferation, and reactive gliosis; repair: after 2 weeks is characterized by removal of necrotic tissue, loss of CNS architecture and gliosis; producing pattern called psudolaminar necrosis in cerebral neocortex

Answer 52

Thalamus, basal ganglia, and deep white matter

Answer 53

Middle cerebral

Answer 54

Embolization of bone marrow after trauma

Answer 55

Carotid bifurcation, origin of middle cerebral a, and either end of basilar a

Answer 56

Syphilis, TB, and now more common in setting of immunosuppression and opportunistic infection (aspergillosis or CMV encephalitis)

Answer 57

Non-infectious vasculitide that can cause single or multiple infarcts in the brain

Answer 58

Inflammatory disorder involving multiple small to medium sized parenchymal and subarachnoid vessels; characterized by chronic inflammation, multinucleated giant cells, and destruction of vessel wall; known as granulomatous angiitis of nervous system; manifests as a diffuse encephalopathy or multifocal clinical picture; Pts improve with steroids and immunosuppressants

Answer 59

Little change in first 6 hrs; 48 hours: tissue becomes pale, soft and swollen and corticomedullary junction in distinct; 2-10 days: brain becomes gelatinous and friable and boundary btw normal and injured tissue becomes distant; 10 days-3 wks: tissue liquifies

Answer 60

Lacunar infarcts, slit hemorrhages, HTN encephalopathy and massive HTN intraccerebral hemorrhage

Answer 61

Small cavitary infarcts resulting from ateriolar sclerosis; occur in lenticular nucleus, thalamus, internal capsule, deep white matter, caudate nucleus, pons (descending order of frequency)can be clinically silent or symptomatic; affected vessels can also be associated with widening of perivasucular spaces without infarction (etat crible)

Answer 62

HTN causes rupture of small penetrating vessels; these hemorrhage’s are small and resorb leaving behind a slit-like cavity surrounded by brown discoloration; on histo, show focal tissue destruction, pigment laden macrophages and gliosis

Answer 63

Characterized by diffuse cerebral dysfunction including headaches, confusion, vomiting, convulsions and can lead to coma; need rapid therapy

Answer 64

Numerous infarcts that causes dementia, gait abnormalities, and pseudobulbar signs; caused by: cerebral atherosclerosis, vessel thrombosis or embolism, cerebral arteriolar sclerosis from chronic HTN; *binswanger when just involved white matter with myelin and axon loss

Answer 65

HTN (ganglionic hemorrhage’s) and cerebral amyloid angiopathy (lobar hemorrhage’s)

Answer 66

Small aneurysms associated with HTN

Answer 67

Amyloidogenic peptides deposit in medium and small meninges and cortical vessels -> weakens them and lead to hemorrhage; *effect of ApoE genotype on risk of occurrence (presence of epislon 2 or 4 allele)

Answer 68

Do not collapse and no fibrosis

Answer 69

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; mutations in NOTCH3 gene that lead to misfolding of EC NOTCH3 receptor -> causes vascular smooth m dysfunction; characterized by recurrent strokes and dementia; first changes are in white matter; arteries show thickening of media and adventitious, loss of smooth m, and basophilic PAS positive deposits

Answer 70

Rupture of saccular (berry) aneurysm in a cerebral a

Answer 71

Fusiform (atherosclerotic), mycotic, traumatic, dissecting (last 3 cause infarction rather than subarachnoid hemorrhage)

Answer 72

Junction of anterior communicating and anterior cerebral a

Answer 73

Polycistic kidny dz, NF1, ehlers Danilo’s type IV, Marian

Answer 74

Hyalinized intima and covering of adventitia

Answer 75

Increased risk of additional ischemic injury from vasospasm *greatest significance in basal subarachnoid hemorrhage (spasm circle of Willis); during healing, meninges fibrosis and scarring occur (can obstruct CSF flow)

Answer 76

AV, cavernous, capillary telangiectasias, venous Angiomas ; *first 2 are associated with risk of hemorrhage and development of neuro symptoms

Answer 77

Consist of distended, loosely organized vascular channels arranged back to back with collagenized walls; no brain parenchyma between vessels; most often in cerebellum, pons, and subcortical regions; low flow channels

Answer 78

Microscopic foci of dilated, thin walled vascular channels separated by normal brain parenchyma that occur most frequently in the pons

Answer 79

Aggregates of ecstatic venous channels; Foix-Alajouanine dz (angiodysgenetic necrotizing myelopathy) is a venous angiomatous malformation of the SC and overlying meninges (lumbosacral region) associated with ischemic injury to SC

Answer 80

10-30 years old as a seizure disorder, intracerebral hemorrhage or subarachnoid hemorrhage; most common in posterior branches of middle cerebral a

Answer 81

CHF because of shunt effects; especially if involves vein of Galen

Answer 82

Cavernous (AD)

Answer 83

Hematogenous spread

Answer 84

Aseptic (viral), acute pyogenic (bacterial), chronic (TB, spirochetal, or cryptococcal)

Answer 85

E. coli and group B strep in neonates, strep pneumonia and listeria in elderly, neiserria meningiditis in adolescents and young adults; also H influenzae but vaccine has reduced this

Answer 86

Increased protein, cloudy, high neutrophils, reduced glucose

Answer 87

Meningococcal and pneumococcal

Answer 88

Klebsiella; may have uncharacteristic CSF findings making timely diagnosis more difficult

Answer 89

(Usually caused by enteroviruses); lymphocytic pleocytosis, moderate protein elevation, normal glucose; usually self limited

Answer 90

When epidermis cyst ruptures into subarachnoid space or introduction of chemical irritating; CSF is sterile, pleocytosis with neutrophils and increased protein, but glucose is normal

Answer 91

Abscess (caused by strep or staph) and empyema (caused by staph or anaerobic gram -)

Answer 92

Enterovirus, measles (subacute sclerosing panencephalitis), influenza, lymphocytic choriomeningitis

Answer 93

Herpes, CMV, HIV, JC polyomavirus (progressive multifocal leukoencephalopathy)

Answer 94

West Nile, eastern/western/Venezuelan equine encephalitis virus, St. Louis/la crosse/Japanese/tick-borne encephalitis virus,

Answer 95

Polio and West Nile virus

Answer 96

Rickettsia rickettsii, treponema pallidum, borrelia burgdorferi (Lyme), cryptococcal neoformans and Candida albicans (fungal)

Answer 97

Plasmodium falciparum (cerebral malaria) and naegleria (amebic encephalitis)

Answer 98

Toxoplasma Gondii and Taenia sodium (cysticercosis)

Answer 99

Localized focus of. Necrosis of brain tissue (usually bacterial cause) *acute bacterial endocarditis, congenital heart dz (loss of pulm filtration of organism), chronic pulm sepsis, systemic dz with immmunosuppression all causes *strep and staph

Answer 100

Liquefactive necrosis; surrounding brain has neovascularization with very permeable vessels -> edema

Answer 101

High WBCC and increased protein concentration but glucose is normal

Answer 102

Results from bacterial (and rarely fungal) infection of skull bones or air sinuses that spread to subdural space; can produce thrombophlebitis or bridging veins that cross the subdural space resulting in venous occlusion and infarction of brain; most pts febrile, headache and neck stiffness; CSF similar to brain abscess

Answer 103

Mononuclear or mixed cells, elevated protein and reduced or normal glucose

Answer 104

Arachnoid fibrosis producing hydrocephalus and obliterative endarteritis producing arterial occlusion and infarction of brain; tuberculosis produce symptoms similar to space-occupying lesions and must be distinguished from tumors

Answer 105

Meningovascular neurosyphilis, paretic neurosyphilis and tabes dorsalis; most common is combo of paretic and tabes

Answer 106

Chronic meningitis involving base of brain; can be associated endarteritis (huebner arteritis); gummas (plasma cell rich mass lesions) occur in meninges and extend into parenchyma

Answer 107

Caused by invasion of brain by T pallidum; progressive cognitive impairment associated with mood alterations (delusions of grandeur) that terminate in severe dementia (general paresis of the insane); damage common to frontal lob; loss of neurons, proliferation of microglia, gliosis and iron deposits (Prussian blue stain)

Answer 108

Damage to dorsal roots (sensory); no pain, locomotor ataxia, Charcot joints (damage), lighting pains and absence of DTRs; loss of axons and myelin with pallor and atrophy of dorsal columns; organisms not demonstrable in cord lesions

Answer 109

Facial n palsy and encephalopathy

Answer 110

Colorless CSF, slightly elevated pressure, elevated protein, normal glucose, starts neutrophilic but rapidly converts to lymphocytes

Answer 111

Multiple foci of necrosis of gray and white matter; evidence of single-cell neuronal necrosis with phagocytosis of debris (neuronophagia); microglia cells form aggregates around necrosis called microglia nodules

Answer 112

Patients who have inherited LOF mutation in TLR3 signaling pathway

Answer 113

Starts in and most severely involves inferior and medial regions of temporal lobes and orbital gyri of frontal lobes; necrotizing and sometimes hemorrhagic; Cowdry type A inclusion bodies in neuron and glia

Answer 114

Fetuses and immunosuppressed; outcome in utero is periventricular necrosis that produces severe brain destruction followed by microcephaly and periventricular calcification

Answer 115

Edema and vascular congestion; widespread neuronal degeneration and inflammatory reaction most severe in brainstem; negri bodies are found in cytoplasm found in pyramidal neurons of hippocampus and purkinje cells of cerebellum

Answer 116

Distance from wound to brain

Answer 117

CNS excitability (slight touch is painful), violent moron responses, contracture of pharyngeal m on swallowing produces foaming -> causes fear of swallowing (hydrophobia); flaccid paralysis; alternating mania and stupor progresses to coma and death from resp failure

Answer 118

Identified in patients with AIDS after effective treatment; consists of exuberant inflammatory response while on therapy; in CNS causes exacerbation of symptoms from opportunistic infections

Answer 119

Inflammatory activation of microglia cells

Answer 120

Oligodendrocytes *causes demyelination; occurs in individuals with chronic lymphoproliferative or myeloproliferative illnesses, immunosuppressive chemo (monoclonal ab therapy targeting integrins), granulomatous dz, and AIDS

Answer 121

No; reactivation in immunosuppressed causes symptoms

Answer 122

Rare progressive clinical syndrome characterized by cognitive decline, spasticity of limbs and seizures; occurs in children or youn adults months or years after initial acute infection with measles; stems from infection if CNS by altered measles virus; characterized by gliosis and myelin degeneration; viral inclusions in oligodendrocytes and neurons and neurofibrillary tangles

Answer 123

Aspergillus fumigation, Candida albicans, Mucor species (can cause direct extension in ppl with diabetes), and cryptococcus neoformans

Answer 124

Meningitis, vasculitis (mucormyosis and aspergillosis; both invade bv walls), and parenchymal invasions (granulomas or abscesses; candida and cryptococcus)

Answer 125

Meninges are opaque and thickened that can obstruct CSF outflow; sections of brain have gelatinous material in subarachnoid space and small cysts within the parenchyma (soap bubbles) which are prominent in basal ganglia in distribution of lencticulostriate arteries; lesions consist of aggregates of organisms within expanded virchow robin spaces associated with absent inflammation *No gliosis

Answer 126

Ring enhancing lesions (also seen with CNS lymphoma, TB and fungal infection)

Answer 127

Lesions exhibiting central necrosis, petechial hemorrhage’s surrounded by acute and chronic inflammation macrophages and vascular proliferation; free tachyzoites and encrypted bradyzoites found at periphery of necrotic foci *giemsa stain; surrounding vessels may show fibrinogen necrosis and thrombosis; after treatment -> lesions show well demarcated areas of coagulation necrosis

Answer 128

Plasmodium falciparum

Answer 129

Creutzfeldt-Jakob, gerstmann-Straussler-scheinker syndrome, fatal familial insomnia and Kuru in humans; in sheep; scrapie, mink transmissible encephalopathy, chronic wasting dz of deer and elk, and bovine spongiform encephalopathy

Answer 130

When PrP undergoes conformational change from alpha helix to beta pleated sheet (acquires resistance to digestion with pro teases; induces development of cytoplasmic vacuoles *western blotting diagnostic

Answer 131

Codon 129 that encodes either Met or Val; if homozygous for either, overrepresented in CJD; heterozygosity is protective

Answer 132

Corneal transplant, deep implantation of electrodes in brain, administration of contaminated preparations of naturally derived human growth hormone

Answer 133

Changes in memory and behavior followed by progressive dementia and involuntary jerking m contractions on sudden stimulation (startle myoclonus); fatal (7 month prognosis)

Answer 134

Affected young adults, behavioral disorders early on, neuro symptoms progressed slower; linked to exposure of bovine spongiform encephalopathy; variant CJD characterized by presence of extensive cortical plaques surrounded by halo of spongiform changes; NO alterations in PRNP and is limited to codon 129 Met/Met homozygotes

Answer 135

Extracellular deposits of aggregated abnormal protein; Congo red and PAS positive; usually in cerebellum; abundant in cerebral cortex in vCJD

Answer 136

Also causes by mutation in PRNP gene; leads to asp substitution for asparagine at residue 178 of PrP; results in FFI when it occurs in a PRNP allele encoding met at codon 129 but causes CJD when present in tandem with a valine at this position; develop ataxia, autonomic disturbances, stupor and coma

Answer 137

Only one that doesn’t show spongiform pathology; alteration is neuronal loss and reactive gliosis in anterior ventral and dorsal medial nuclei of thalamus and inferior Oliver you nuclei

Answer 138

Autoimmune demyelination disorder characterized by episodes of neuro deficit separated in time, attributable to white matter lesions that are separated in space; women more than men; relapsing and remitting episodes of variable duration

Answer 139

Th1 and 17 that react against myelin antigens; also thought to involve B cells

Answer 140

Lesions sure firmer than surrounding matter (sclerosis) and appear as well circumscribed depressed glassy gray-tan plaques; commonly occur adjacent to lateral ventricles and are frequent in optic nerves and Chiasm, brainstem, ascending and descending fiber tracts, cerebellum and SC; can extend to gray matter

Answer 141

Active: ongoing myelin breakdown, preservation of axons, depletion of oligodendrocytes Inactive: no myelin found, reduction in number of oligodendrocyte nuclei, astrocytic proliferation and gliosis

Answer 142

Where border between normal and affected white matter isn’t sharply circumscribed; evidence of partial and incomplete demyelination by surviving oligodendrocytes

Answer 143

Unilateral visual impairment due to involvement of optic n (optic neuritis, retrobulbar neuritis) - usually first sign but small percent go on to develop MS; involvement of brainstem produces nystagmus, ataxia, and internuclear ophthalmoplegia (medial longitudinal fasciculus); spasticity and bladder function problems

Answer 144

Elevated protein, moderate pleocytosis; IgG levels increased

Answer 145

Bilateral optic neuritis and SC demyelination; more women than men; abs against aquaporin 4 (major water channel in astrocytes); injure astrocytes via complement; cannot transfer dz; white cells common in CSF including neutrophils; damaged areas show necrosis and inflammation infiltrate and vascular dep of Ig; treat with anti-CD20 ab (kill B cells)

Answer 146

Diffuse monophasic demyelination gets dz that follows viral infection (or immunization); headache, lethargy and coma

Answer 147

(Aka acute hemorrhagic leukoencephalitis of Weston hurst); CNS demyelination affecting young adults and children; preceded by episode of URI; fatal in many patients with deficits seen in survivors

Answer 148

Grayish discoloration around white matter vessels; myelin loss with preservation of axons; neutrophils found in early stages, later mononuclear; lipid. Laden macrophages; all lesions appear similar (unlike MS)

Answer 149

Perivenular demyelination; damage is more severe than acute disseminated encephalomyelitis and include destruction of small bv and necrosis of white and gray matter w/ hemorrhage, fibrin deposition and neutrophils

Answer 150

Loss of myelin in basis pontis and pontine tegmentum; arises afte rapid correction of hyponatremia *aka osmotic demyelination disorder; rapid increases in osmolality injure oligodendrocytes; no inflammation; neurons and axons preserved; periventricular and subpar regions are spared; *symptoms: rapidly evolving quadriplegia -> locked in syndrome (conscious but unresponsive)

Answer 151

Accumulation of protein aggregates

Answer 152

Alphabeta plaques and tau tangles

Answer 153

Tau, TDP-43, FUS; causes behavioral changes and language disturbance

Answer 154

A-syuclein and Tau

Answer 155

Tau; causes Parkinsonism with abnormal eye mvmnts

Answer 156

Tau; causes Parkinsonism with asymmetric mvmnt

Answer 157

A-synuclein; causes Parkinsonism, cerebellar ataxia, autonomic failure

Answer 158

Huntington (polyglutamine); causes hyperkinetic mvmnt

Answer 159

Polyglutamine containing proteins; causes cerebellar ataxia

Answer 160

Sod1, TDP-43, and FUS; causes weakness with upper and lower MN

Answer 161

Androgen receptor (polyglutamine containing); causes LMN weakness and diminished androgen

Answer 162

Plaques: alpha beta peptides in neuropil Tangles: aggregates of microtuble binding protein, tau; develop intracellularly and persist extracellularly after neuronal death

Answer 163

Development of alpha beta peptides

Answer 164

Mutation in APP (which is what alpha beta is derived from)

Answer 165

APP can either be cleaved by alpha secretary (forming soluble form) or beta secretary (forms alpha beta)

Answer 166

Chromosome 21 in Down syndrome region

Answer 167

PS1 on chrom 14 and PS2 on chrom 1; both encode for presenilins (part of gamma secretase)

Answer 168

Becomes hyperphosphorylated and loses ability to bind to microtubules

Answer 169

Locus on chrom 19 that encodes ApoE has strong influence on risk of developing AD; epsilon 4 increases risk and lowers the age of onset; ApoE isoform promotes alphabeta generation and deposition

Answer 170

Tangles; biochemical markers that have been correlated with degree of dementia include loss of choline acetyltransferase, synaptophysin immunoreactivity, and amyloid burden; also presence of increased phosphorylated tau and reduced alpha beta in the CSF

Answer 171

Cortical atrophy, widening of sulci; ventricular enlargement (hydrocephalus ex vacuo); hippocampus, entorhinal cortex and amygdala involved early; microscopic changes: neuritis (sensible) plaques and tangles

Answer 172

Deposition of alpha beta peptides in absence of surrounding neuritis processes; believed to be early stage of plaque development (ie: seen in downs); made up of alpha beta 42

Answer 173

Pyramidal: flame shape Round: rounded contour; globose tangles *demonstrated by bielschowky (silver) stain

Answer 174

Accompaniment of AD, but can be found in absence of AD; vascular amyloid is alpha beta 40

Answer 175

Heterogenous set of disorders associated with focal degeneration of frontal and/or temporal lobes; distinguished from AD by the fact that alternates in personality, behavior and language precede memory loss

Answer 176

Affected cortical regions demonstrate progressive neuronal loss and reactive gliosis along with presence of tau containing inclusion in cytoplasm; tangles can resemble AD or be smooth contoured inclusions called Pick bodies(contain 3R tau) *pick dz (spares posterior 2/3 of superior temporal gyrus)

Answer 177

Contain TDP-43 (RNA-binding protein) inclusions; 3 diff mutations can cause it: 1. )most common - expansion of hexanucleotide repeat in 5’ UTR of C9orf72 (also causes ALS) 2. )mutation in gene encoding TDP-43 (also occur in familial ALS) 3. )mutation in gene encoding progranulin (NOT linked to ALS); LOF mutation; progranulin expresssed in glia nd neurons that is cleaved into peptides that regulate inflammation in the brain

Answer 178

Mutation in FUS (fused in sarcoma) gene can cause either FTLD or ALS

Answer 179

Diminished facial expression (masked facies), stooped posture, slowing of voluntary mvmnt, destinations gait, rigidity and pill rolling tremor

Answer 180

Tremor, rigidity, bradykinesia

Answer 181

- AD -> point mutations and amplifications of chrom 4q21 (a-synuclein); major component of Lewy body; first appear in medulla and then ascend through brainstem and lambic structures - mitochondrial dysfunction: AR; mutations in genes that encode DJ-1, PINK1, and Parkin; complex I are reduced in ppl with sporadic PD - mutations in gene encoding LRRK2 (leucine rich repeat kinase 2) (AD); cytoplasmic kinase

Answer 182

Pallor of substantia nigra and locus ceruleus; Lewy bodies (in neurons and cells of basal nucleus of Meynert)

Answer 183

Fluctuating course, hallucinations, prominent frontal signs; Lewy bodies have “spread” advanced PD

Answer 184

Atypical do not respond to l-dopa and have other symptoms

Answer 185

Tauopathy (atypical Parkinsonism syndrome); developer progressive truncal rigidity, disequilibrium with frequent falls and difficultly with voluntary eye mvmnts; also see nuchal dystopia, pseudobulbar palsy and mild progressive dementia; males more than females; often fatal within 5-7 yrs

Answer 186

Widespread neuronal loss in globus pallidum, subthalamic nucleus, substantia nigra, colliculi, peri aqueduct all gray matter, and dentate nucleus; globose fibrillation tangles found; 4R tau

Answer 187

Progressive tauopathy (atypical Parkinsonism syndrome) characterized by extrapyramidal rigidity, asymmetric motor disturbances (jerking mvmnts of limbs), impaired higher cortical function (apraxia); more cerebral cortical involvement than PSP (which has more brainstem and gray matter)

Answer 188

Cortical atrophy, mainly of motor, promoter, and anterior parietal lobes; ballooned neurons* (neuronal achromasia)

Answer 189

Sporadic disorder that affects several functional systems in the brain and is characterized by cytoplasmic inclusions of a-synuclein in oligo. *pathologica hallmark is observed in glial cells and associate with degeneration of white matter

Answer 190

- striatonigral circuit (leading to parkinsonism) - olivopontocerebellar circuit (leading to ataxia) - autonomic nervous system (leading to autonomic dysfunction with orthostatic hypotension)

Answer 191

A-synuclein is component of glial inclusions; sporadic dz; inclusions disappear as cells die in final stages; no upregulation of a-synuclein in white matter or oligo -> acquire it when neurons die

Answer 192

AD dz characterized by progressive mvmnt disorders and dementia, caused by degeneration of striata neurons; hyperkinetic involving whole body (chorea); fatal (on avg about 15 yrs)

Answer 193

HTT on chrom 4pq16.3

Answer 194

Repeats occur during spermatogenesis; paternal transmission is associated with early onset in next generation

Answer 195

Small brain with atrophy of caudate nucleus and putamen; lateral and third ventricles dilated; atrophy frequent in frontal lobe; changes develop in medial to lateral direction in caudate and front dorsal to ventral in putamen; spared neurons: diaphorase positive that express NO synthase and cholinesterase positive

Answer 196

Friedreich ataxia and ataxia-telangiectasia

Answer 197

Group of disorders that present with symptoms of cerebellum (ataxia), brainstem, SC, and peripheral nerves; caused by 3 types of mutations - polyglutamine diseases: similar to HD; SCA1-3 (machado-Joseph dz), 6-7 (includes visual impairment) 17, and dentatorubropallidoluysian atrophy (DRPLA) - expansion of non-coding region repeats; SC8,10,12,31,36 - Point mutations in variety of genes

Answer 198

Progressive ataxia, spasticity, weakness, sensory neuropathy, and cardiomyopathy; begins in first decade of life with gait ataxia followed by hand clumsiness and dysarthria; DTRs depressed but extensor plantar reflex present; most develop pes cavus and kyphoscoliosis; wheelchair bound within 5 yrs; life expectancy 40-50 (die from heart failure); diabetes found in 25%

Answer 199

Expansion of GAA repeat in first intron of gene in chrom 9q13 that encodes frataxin (found in inner mit membrane - involved in assembly of iron-sulfur cluster enzymes of complex I and II); reduced frataxin -> reduced oxphos and increased free iron (oxidative stress)

Answer 200

Loss of axons and gliosis in posterior columns of SC, distal portions of corticospinal tracts, and spinocerebellar tracts; degeneration of neurons in SC (Clarke column), the brainstem (CN VIII, X, an XII), the cerebellum (dentate, pukinje of sup vermis), and betz cells of motor cortex; DRG also decreased; heart is enlarged and has pericardial adhesions

Answer 201

Ataxic-dyskinesia syndrome beginning in early childhood with development of telangiectasias in conjunctiva and skins along with immunodeficiency; ATM mutated on chrom 11q22-33 - encodes kinases that repairs dsDNA breaks, facilitation of apoptosis, maintenance of telomeres, mit homeostasis, response to oxidative stress, and maintenance of ubiquitin-proteosomal degradation

Answer 202

Predominantly in cerebellum; loss of purkinje and granule cells; degeneration of dorsal columns, spinocerebellar tracts, and antior horn; bizarre enlargement of nucleus (amphicytes); LN, thymus and gonads are hypoplastic

Answer 203

Death in second decade; initial symptoms: recurrent sinopulmonary infections and unsteadiness in walking; speech becomes dysarthria and eye mvmnt ab develop; many develop T cell leukemia’s

Answer 204

Sporadic; genetic are AD

Answer 205

- gene encoding copper-zinc superoxide dismutase (SOD1) on chrom 21; missense mutation (forms aggregates -> UPR); may contribute to sporadic form as well - A4V mutation is most common in US; associated with rapid course and rarely involvement of UMN - MOST COMMON: expansion of hexanucleotide repeat in 5’ UTR of C9orf72

Answer 206

Anterior roots of SC are thin and precentral motor gyrus is atrophic; reduction in number of ant horn neurons associated with reactive gliosis; similar findings in hypoglossal ambiguous and motor trigeminal cranial nerve nuclei; remaining neurons contain bunina bodies (remnants of autophagic vacuoles)

Answer 207

Uncommon cases of ALS in which LMN involvement predominates

Answer 208

Cases of ALS with mostly UMN involvement

Answer 209

Degeneration of lower brainstem cranial motor nuclei occurs early and progresses rapidly; abnormalities of deglutition and phonation dominate and clinical course is inexorable during 1 or 2 year period

Answer 210

Those innervating extra-ocular mm

Answer 211

X-linked polyglutamine repeat expansion dz; characterized by distal limb amyotrophic and bulbar signs (atrophy and fasciculations of tongue, dysphagia) assoc with. LMN in spinal cord and brainstem; expanded repeat occurs in first exon of androgen receptor and results in androgen insensitivity, gynecomastia, testicular atrophy, and oligospermia; cell injury is caused by androgens binding to deformed receptor; RX: decrease androgens

Answer 212

Group of genetically linked disorders of childhood with marked loss of LMN -> weakness; SMA type I (werdnig-Hoffman) is most severe with onset during first year and death within 2; SMA III (Kugelberg-welander) motor disability emerges later childhood; severity repeated to level of SMN involved in assembly of spliceosome; assoc with disruption of SMN1

Answer 213

Predominately AR caused by deficiency of enzyme involved in catabolism of sphingolipids, mucopolysaccharides, or mucolipids

Answer 214

Mostly AR; caused by mutations in genes encoding enzymes involved in myelin synthesis or catabolism; some involve lysosomal enzymes or peroxisomal enzymes; diffuse involvement of white matter leading to deterioration in motor skills, spasticity, hypotonia, or ataxia

Answer 215

Group of disorders of oxphos; affect multiple tissues including skeletal m; when involve brain, gray matter is more affected; can be caused by mutations in mit or nuclear genomes

Answer 216

Leukodystrophies present with progressive loss of cerebral function at younger ages and are associated with diffuse and symmetric changes on imaging

Answer 217

AR leukodystrophy resulting from deficiency of galactocerebroside beta galactosidase (galactosylceramidase); required for catabolism of galactocerebroside to ceramide and galactose; alternative pathway shunts galactocerebroside to gaactosylsphingosine which are cytotoxic; onset btw 3-6 months; loss of myelin and oligo in CNS and PNS; *unique = aggregation of engorged macrophages (globoid cells); hematopoietic stem cell transplant needed

Answer 218

AR; results from deficiency of lysosomal enzyme arylsulfatase A; cleaves sulfate from sulfate-containing lipids as first step in degradation; accumulation of sulfatides inhibits differentiation of oligo and elicits proinflamm response from microglia; *vacuoes contain sulfatides which bind to dyes like toluidine blue (metachromasia); can be found in urine

Answer 219

X-linked recessive; mutations in ATP-binding cassette transporter (ABCD1) which is involved in transport of molecules into peroxisome; typical: young males present w/ behavior changes and adrenal insufficiency; inability to cat VLCFA

Answer 220

Characterized by recurrent episodes of acute neurological dysfunction, cognitive changes, and muscle involvement with weakness and lactic acidosis; stroke-like - reversible not specific to vascular; areas of infarction are seen with focal calcification; neurons and vascular smooth m have altered expression of cytochrome c oxidase; *most common mutation is in gene encoding mit tRNA-leucine (MTTL1)

Answer 221

Mit enceph.; maternally transmitted; causes myoclonus and myopathy; ragged red fibers on m biopsy; ataxia; mutation in tRNAs

Answer 222

Disease of infancy characterized by lactic academia, arrest of psychomotor development, feeding problems, seizures, extraocular palsies, and weakness with hypotonia; death in 1-2 years; histo: multifocal regions of destruction of brain associated with spongiform appearance and proliferation of bv; brainstem, thalamus, and hypothalamus involved; nuclear and mit DNA mutations

Answer 223

Wernickes encephalopathy; psychotic symptoms and ophthalmoplegia; can progress to korsakoff syndrome (short term mem loss and confabulation)

Answer 224

Hemorrhage and necrosis in mammillary bodies and walls of 3rd and 4th ventricles; progress to lesions in dorsomedial nucleus of thalamus

Answer 225

Subacute combined degeneration of SC; degeneration of ascending and descending spinal tracts; lesions are caused by defect in myelin formation; b/l symmetric numbness, tingling and ataxia in LE; complete paraplegia can occur; swelling of myelin layers, producing vacuoles; in early stages, mid-thoracic SC is affected

Answer 226

Initially leads to selective injury of large pyramidal neurons in cerebral cortex (pseudolaminar necrosis of cortex); hippocampus and purkinje also vulnerable

Answer 227

None; individual becomes dehydrated and develops confusion, stupor and coma; fluid depletion must be corrected gradually to avoid severe cerebral edema

Answer 228

Astrocytes (alzheimer type II cells) appear in cerebral cortex and basal ganglia in response to elevated ammonia

Answer 229

Neurons of layers III and V of cerebral cortex, sommer, and purkinje; b/l necrosis of globus pallidum may occur

Answer 230

Mostly retina; degeneration of retinal ganglion causes blindness; b/l necrosis of putamen occurs when severe; formate (metabolite) disrupts oxphos

Answer 231

Atrophy and loss of granule cells in anterior vermis; loss of purkinje cells and proliferation of adjacent astrocytes (Bergman gliosis)

Answer 232

Papillaedema; coagulative necrosis; edema in surrounding tissue; and fibrinoid necrosis; when given with methotrexate, cause lesions adjacent to lateral ventricles; can induce formation of gliomas, mengingiomas and sarcomas

Answer 233

Kids: post fossa Adults: cerebrum above the tentorium

Answer 234

Astrocytomas, oligodendrogliomas, and ependymomas

Answer 235

Two categories - diffusely infiltrating astrocytomas - localized astrocytomas (most common is pilocytic astrocytoma)

Answer 236

Account for 80% of adult primary brain tumors; usually found in cerebral hemispheres; common presenting sign: seizures, HA< and focal neuro deficits; show spectrum of histo differentiation: diffuse astrocytomas (II/IV), anaplastic (III/IV) or glioblastoma (IV/IV); no grade I

Answer 237

Majority; mutations in PTEN (tumor suppressor), deletions in chrom 10, and amplification of EGFR oncogene; focal deletion of chrom 9p21 results in hemizyogous del of CDKN2A tumor suppressor

Answer 238

Most common type associated with secondary glioblastoma; characterized by mutation in Tp53, point mutations in isocitrate DH genes (IDH1/2); overexpression of PDGFRA

Answer 239

Higher levels of NEFL, GABRA1, SYT1, and SLC12A5

Answer 240

Deletions of NF1 gene on chrom 187 and lower expression of NF1 protein; TNF and NF-kB highly expressed

Answer 241

Presence of mutation in IDH1 (R132H)

Answer 242

Poorly defined, gray, infiltrating; expand and distort brain; cellular density greater than white matter; btw tumor cell ulcer, GFAP astrocytic processes create fibrillation appearance

Answer 243

Densely cellular and have greater paleo or phish; mitotic figures seen

Answer 244

Tumors in which predominant neoplastic astrocyte shows brightly eosinophilic cell body from which emanate abundant stout processes

Answer 245

Variation in appearance of tumor from region to region; histologica appearance is similar to anaplastic astrocytoma with additional features of necrosis(in a serpentine pattern) and vascular/endothelial proliferation (double layer of endothelial cells) - forms glomerloid body; tumors collect along edges of necrotic regions producing pattern referred to as pseudo-palisading

Answer 246

Diffuse glioma with extensive infiltration of multiple regions of the brain; aggressive - grade III/IV

Answer 247

Has leaky vessels with permeable BBB

Answer 248

Grade I/IV; distinguished by their gross and micro appearance and benign behavior; typically in children and young adults; usually in cerebellum (but also optic n, wall and floor of 3rd ventricle) occurs with neurofibromatosis type I (loss of neurofibromin) not seen in sporadic forms; two alterations in BRAF signaling have been noted; translocation and activating point mutation (V600E); treat with BRAF inhibitors

Answer 249

Usually cystic; tumor composed of bipolar cells with hairlike processes that are GFAP-positive and form fibrillary meshwork; rosenthal fibers and eosinophilic granular bodies characteristic; limited infiltration of surrounding brain

Answer 250

Those that grow into hypothalamic region from optic tract

Answer 251

Occurs most often in temporal lobe in children and young adults usually w/ history of seizures; consists of neoplasticism astrocytes (sometimes filled w/ lipid); can suggest high grade astrocytoma, but presence of reticulum deposits, circumscription, and chronic inflam infiltrates distinguish it from malignancy (also lack of necrosis and mitosis activity) grade II/IV

Answer 252

Subgroup of astrocytomas; occur in first 2 decades; intrinsic pontine gliomas (most common; aggressive and short survival) cervicomedullary (less aggressive); dorsally exophytic gliomas (even more benign); *pontine - most have Lys->Met at pos 27 in his tone H3.1/.3

Answer 253

Infiltrating gliomas comprise of cells that look like oligo.; may have history of seizures; lesions in cerebral hemi w/ predilection for white matter

Answer 254

Most common mutation is isocitrate DH 1/2 (better prognosis); deletions of chrom 1p and 19q also seen; loss of 9p and 10q and must in CDKN2A; BUT EGFR gene amplification not seen (seen w/ astrocytomas); those w/out loss of 1p or 19q resistant to chemo

Answer 255

Well circumscribed, gelatinous, gray, often w/ cysts; focal hem and calcification;mitotic activity minimal; grade II

Answer 256

Grade III; higher cell density, nuclear, anaplasia, mitotic activity, and necrosis; grouped with glioblastoma

Answer 257

Better prognosis than astrocytomas

Answer 258

Tumors that arise next to ependyma-lined ventricular system including central canal of SC; in 1st 2 decades, occur near 4th ventricle; in adults, SC common location; *frequent in setting of NF2

Answer 259

NF2 on chrom 22 (only if in SC); 2 subtypes - mesenchymal (younger w/ higher probability of Mets) and aberrations of large regions of chrom that tend to have better prognosis

Answer 260

Hard to remove b/c of location in brain; easier to remove in SC; can form rosettes or canals that resemble embryo logic ependymal canal; *perivascular pseudorosettes (tumor cells arrange around vessels w/intervening zone of thin ependymal processes); grade II (anaplastic grade III)

Answer 261

Occur in filum terminals of SC and contain papillary elements; cuboidal cells arranged around pap cores containing conn tissue and bv; myxoid areas contain neutral and acidic mucopolysacc. Prognosis depends on resection; if tumor extends into subarachnoid space and surrounded roots of cauda equina, recurrence likely

Answer 262

Post fossa -> manifest as hydrocephalus; poor prognosis; - subependymomas:: solid and sometimes calcified; slow growing; protrude into ventricle; asymptomatic and usually found at autopsy - choroid plexus papilloma: most common in children in lat ventricles; in adults, 4th ventricle; look like normal choroid plexus; hydrocephalus - choroid plexus carcinoma: rarer; resemble adenocarcinoma; in adults, must be determined if met; - colloid cyst of 3rd ventricle: non-neoplasticism enlarging cyst attached to roof of 3rd ventricle; noncommunicating hydrocephalus (rapidly fatal) *headache (positional)

Answer 263

Most common Neuronal tumors; mixture of neuronal and glial cells; superficial lesions that present with seizures; slow growing but glial component can become anaplastic and progress rapidly; mutation in BRAF gene (V600E) and assoc w/ shorter recurrence-free survival; *found in temporal lobe and have cystic component; glial component usually low grade astrocytoma-like (no mitotic activity or necrosis)

Answer 264

Rare, low grade (I) tumor of childhood that presents as seizure disorder; good prognosis following resection w/ low recurrence and seizure control; located in superficial temporal lobe; often attenuation of overlying skul; typically form discrete intracortical nodules of small, round cells arranged in columns around central processes; well-differentiated “floating neurons” that sit in pools of mucopolysacc fluid of myxoid

Answer 265

Low grade (II) neuronal neoplasms found in ventricular system; evenly spaced, round uniform nuclei; resemble oligodendroglioma but histo reveals neuronal lineage

Answer 266

Poorly differentiated neoplasm; malignant; occurs in children and cerebellum; grade IV; alterations in SHH and WNT/beta-cat pathways

Answer 267

- WNT type: mutations in WNT; occurs in older children; classic medulloblastic histo; monopsony of chrom 6 and nuclear expression of beta Catenin; best prognosis - SHH type: mutations in SHH; occurs in infants or young adults; modular desmoplastic histo and MYCN amplification; intermediate prognosis - Group 3: MYC amplification and isochrom 17 (i17q); infants and children; large cell histology *worst prognosis - Group 4: i17q cryogenic alteration, large cell histo, NO MYC amplification but sometimes MYCN amp. Intermediate prognosis

Answer 268

Contain high levels of Ki-67 (marker of cell proliferation); form homer-wright rosettes (like neuroblastoma), express glial markers; modular desmoplastic variant - strongly response marked by collagen and reticulum deposits (forms pale islands); large cell variant: irregular vesicular nuclei, frequent mitosis and apoptosis; at edges, form linear chains of cell infiltrating cortex and penetrating Pia -> can disseminate to far places called drop Mets

Answer 269

Malignant tumor of young children (grade IV); in posterior fossa and supratentorial compartments equally; divergent differentiation; alternations in chrom 22 are hallmark; end hSNF5/INI1 (encodes chromatin remodeling complex)

Answer 270

Cytoplasm has intermediate filaments; immunoreactive to epithelial membrane antigen and vimentin; may be reactive for actin and keratin but not Desmin or myoglobin;*mitotic activity extremely prominent

Answer 271

Primary CNS lymphoma; risk increases after 60 yrs of age

Answer 272

Poor; aggressive and worse outcomes than tumors of comparable histo occurring at non-CNS sites

Answer 273

Unusual large cell lymphoma that grows in small vessels; often involves brain; presents b/c of microscopic infarcts

Answer 274

Midline, most commonly in pineal (males) and Suprasellar regions; more common in japan; tumors of the young; congenital tumors; Mets from gonadal tumor to CNS is common so must rule this out; CSF levels for alpha-fetoprotein and beta-hcg useful for diagnosis and tracking

Answer 275

``` Range from well-diff (pineocytomas): small, round nuclei, no necrosis or mitosis; adults High grade (pineoblastomas): no neuronal diff., smal cells, necrosis and frequent mitotic figures; children; mutations in RB ```

Answer 276

Predominately benign tumors of adults; usually attached to dura; arise from meningothelial cells of arachnoid; can be found on ext surface or in ventricular system; *risk factor: prior radiation

Answer 277

Most common: loss of chrom 22 (esp q); harbors NF2 gene which encodes merlin ; higher grade -TNF receptor associated factor 7. (TRAF7); lower grade

Answer 278

Easily removed from surface of brain; can grow en plaque, which is the tumor spreads in sheet like fashion along surface of dura; associated with hyperostotic changes in adjacent bone; can contain psammoma bodies; necrosis and hem absent; immunoreactive for epithelial antigen

Answer 279

- syncytial: whorled clusters of cells that sit in tight groups without visible membranes - fibroblastic: elongated cells and abundant collagen - transitional - psammomatous: calc of syncytial nests - secretory: PAS positive intracytoplasmic droplets on electron micro - microcystic: loose, spongy appearance

Answer 280

Grade II; lesions w/ higher rate of recurrence and more aggressive growth; may require radiation; distinguished from low grade b/c have 4 or more mitosis per 10 high power fields or at least 2 atypical features (increased cell, small cells w/ high nuclear to cytoplasm ratio, prominent nucleoli, patternless growth, necrosis); clear cell and choroid also considered high grade

Answer 281

Grade III; highly aggressive; high grade sarcoma appearance, but retains evidence of meningothelial origin; high mitotic rate; papillary and rhabdoid meningiomas have high propensity to reoccur

Answer 282

No; but does increase risk of recurrence

Answer 283

Olfactory groove, parasagittal aspect of brain, dura over lateral convexity, wing of sphenoid, sella turcica, and foramen magnum

Answer 284

Females; not common in children

Answer 285

NF2; especially if in association with acoustic neuromas or glial tumors

Answer 286

During pregnancy; have progesterone receptors

Answer 287

Lung, breast, skin (melanoma), kidney, and GI; also choriocarcinoma

Answer 288

Paraneoplastic syndrome; associated with destruction of purkinje cells, gliosis and chronic inflammatory cell infiltrate; circulating PCA-1 an that recognizes purkinje cells; occurs predominantly in women with ovarian, uterine, or breast carcinoma

Answer 289

Paraneoplastic syndrome; Subacute dementia; perivascular inflamm cuffs, microglial nodules, neuronal loss, and gliosis mostly in ant and med temporal lobe; micro resembles infectious process; circulating ANNA-1 ab (anti-hu) recognizes neuronal nuclei in CNS and PNS; associated with small cell carcinoma of lung; another group has circulating ab to NMDA receptor and cross-reacts with hippocampal neurons (assoc with ovarian teratomas); 3rd group has VGKC-complex ab that recognizes voltage-gated K channel

Answer 290

Commonly opsoclonus; associated with neuroblastoma

Answer 291

Paraneoplastic syndrome; associated with limbic encephalitis or alone; loss of sensory neurons from DRG due to lymphocytic inflammation

Answer 292

Paraneoplastic syndrome; ab against voltage gated Ca channel in presynaptic NMJ; can be seen in absence of malignancy as well

Answer 293

Those with plasma membrane reactive abs rather than intracellular antigens

Answer 294

Familial tumor syndrome; dysplastic gangliogliocytoma of cerebellum (lhermitte-Dulcos dz) caused by mutation in PTEN resulting in PI3K/AKT signaling pathway activity

Answer 295

Familial tumor syndrome caused by mutation in TP53; causes medulloblastoma

Answer 296

Familial tumor syndrome caused by mutation in APC or mismatch repair genes; causes medulloblastoma or glioblastoma

Answer 297

Familial tumor syndrome caused by mutation in PTCH gene resulting in upregulation of SHH; causes medulloblastoma

Answer 298

AD; development of hamartomas and benign neoplasms involving brain; most frequent manifestations are seizures, autism, and mental retardation; hamartomas w/in CNS take form of cortical tubers; renal angiomyolipomas, retinal glial hamartomas, pulm lymphangioleiomyomatosis and cardiac rhabdomyomas develop over childhood and adolescence; cysts can form at various sites; cutaneous lesions (angiofibromas, shagreen patches - leathery thickening, hypopigmented ares - ash-leaf patches, and subungual fibromas) form

Answer 299

TSC1 is found on chrom 9q34 and encodes hamartin; mutated locus is TSC2 at 16p13.3 and encodes tuberin; tuberin and hamartin inhibit mTOR; cells are huge; rx is symptomatic

Answer 300

AD - develop hemangiolastomas of CNS (cerebellum and retina) and cysts involving pancreas, liver, kidneys and have propensity to develop renal cell carcinoma and pheochromocytoma; dysregulation of EPO is responsible for polycythemia observed in assoc with hemangioblastomas

Answer 301

AD; NF1 and 2; familiar tumor syndromes characterized by tumors of CNS and PNS; NF1 is more common and is characterized by neurofibromas of peripheral n, gliomas of optic n, pigmented nodules of iris (Lisch nodules) and cutaneous hyperpigmented macules (cafe au lait spots); NF2 -> b/l schwannomas of vestibulocochlear n and multiple meningiomas; gliomas may occur and are commonly ependymomas of SC

Answer 302

When eye is forced out of the socket; may be axial (directly forward) or positional; ie: enlargement of lacrimal gland displaces the eye inferior and medial; masses in the cone formed by horizontal rectus mm generate axial proptosis (also produced by glioma and meningiomas of optic n)

Answer 303

Uncontrolled sinus infection can spread to orbit; most common in immunosuppressed, diabetic ketoacidosis; systemic conditions like wegener granulomatosis may present in orbit and confined there; idiopathic orbital inflammation (pseudo tumor) can be uni or b/l; may affect all orbital tissue or just lacrimal gland (sclerosing dacryoadenitis), the extraocular mm (orbital myositis) or tenon’s capsule (post scleritis) *IgG4-related dz should be excluded b4 declaring idiopathic

Answer 304

Orbital fat replaced by fibrosis

Answer 305

Capillary hemangioma of infancy and early childhood and lymphangioma (both are unencapsulated) and cavernous hemangioma in adults (capsulated)

Answer 306

Can affect entire orbit or confined to compartments of orbit

Answer 307

Periocular ecchymoses

Answer 308

Inflammation of eyelid margin; can obstruct sebaceous glad and cause lipid to extravasate into the surrounding tissue and provoke a granulomatous response (lipogranuloma or chalazion)

Answer 309

Basal cell carcinoma *distinct predilection for lower lid and medial canthus

Answer 310

Chalazion or ocular cicatricial pemphigoid b/c of predilection for intraepithlial spread as occurs in paget dz of nipple or vulva; tends to spread to parotid and submandibular nodes

Answer 311

Vacuolization of cytoplasm; can sometimes resemble basal cell carcinoma; pagetoid spread may mimic bowenoid actinic keratosis in eyelid and carcinoma in situ in the conjunctive; can spread to nasopharynx via lacrimal system

Answer 312

Kaposi sarcoma; in eyelid, purple, but in conjunctiva, bright red (confused with hemorrhage)

Answer 313

Sebaceous cell (metastasizes frequently)

Answer 314

Pseudostratified columnar rich in goblet cells; lacrimal ducts pierce through here; *in viral conjunctivitis, lymphoid follicles can enlarge enough to be visualized by slit-lamp exam; granulomas associated with sarcoidosis can be detected here; primary lymphoma of conjunctiva (b-cell) also most likely here

Answer 315

Part that covers the eye; nonkeratinizing strat squamous

Answer 316

Chlamydia trachomatis

Answer 317

Caused by scarring; leads to decrease in surface mucin, which is necessary for adherence of aqueous component of tears to the corneal epithelium *dry eye

Answer 318

B/c can cause dry eye; treat the intraepithlial portions with cryotherapy or topical chemo

Answer 319

Both are submucosal elevations on the conjunctiva; result from actinic damage therefore located in sun-exposed regions

Answer 320

Typically in conjunctiva astride the limbus; formed by submucosal growth of fibrovascular connective t issue that migrates into cornea; does not cross pupillary axis and does not pose a threat to vision besides mild astigmatism; most are benign

Answer 321

Appears astride limbus; small yellowish submucosal elevation; does not invade cornea* can result in uneven distribution of tear film over cornea; saucer-like depression (delle) results

Answer 322

Mild dysplasia seen through carcinoma in situ in the conjunctiva

Answer 323

HPV types 16 and 18

Answer 324

Differentiates into squamous and goblet cells; much more aggressive

Answer 325

Seldom invade cornea or appear in the fornix or over palpebral conjunctiva (pigmented lesions in these zones most likely melanomas); contain subepithlial cysts lined by surface epithelium; can acquire inflamm component rich in lymphocytes, plasma cells, and eosinophils (inflamed juvenile nevus- benign)

Answer 326

Unilateral; affect fair skinned people in middle age; most develop through primary acquired melanosis with atypia (equal to melanoma in situ); treatment is prevention through extirpation of precursor lesion; lesions spread to parotid or submandibular LN

Answer 327

Collagen, few bv, and fibroblasts; *tends to heal poorly

Answer 328

Necrotizing scleritis; immune complex deposition

Answer 329

- scleritis can make it thin and the normally brown color of uvea may appear blue b/c of optical Tyndall effect - may be thinned in eyes w/ high intraocular pressure; results in staphlyoma which appears blue - OI - heavily pigmented congenital nevus of underlying uvula (known as congenital melanosis oculi); when also have periocular cutaneous pigmentation, known as nevus of ota)

Answer 330

Myopia: eye that is too long Hyperopia: eye that is too short

Answer 331

Laser assisted in situ keratomileusis

Answer 332

Sits beneath epithelial basement membrane; is acellular and forms barrier against penetration of malignant cells from epithlium to stroma

Answer 333

Lacks bv and lymphatics; makes cornea transparent and contributes to the high rate of success of corneal tranplantation (less immunologic graft rejection)

Answer 334

Chronic corneal edema, inflammation and scarring; treat with topical VEGF ant.

Answer 335

NC cells; rest on the basement membrane (Descemet membrane); decrease in endothelial cells results in stroma edema which can be complicated by bullous separation of epithelium (bullous keratopathy)

Answer 336

Descemet membrane

Answer 337

Dissolution of stroma by activation of collagenases and stroma fibroblasts; exudate and cells leaking from iris and ciliary body vessels into ant chamber may be visible by slit-lamp exam; can accumulate enough to be visible by penlight (hypopyon)- also occurs in ulceration; hypopyon doesn’t contain organisms

Answer 338

Degenerations: either uni or b/l; nonfamilial Dystrophies: b/l and typically hereditary; may affect certain layers (Reisbuckler dystrophy affects Bowman and posterior polymorphous dystrophy affects endothelium) or can affect multiple layers

Answer 339

- calcific band keratopathy: deposition of Ca in bowmans layer; can complicate chronic uveitis especially in individuals w/ chronic juvenile rheumatoid arthritis - actinic band keratopathy: develops in ppl exposed chronically to UV light; solar elastics is develops in superficial layers of corneal collagen in interpalpebral tissue; horizontally distributed band of pathology; yellow hue (sometimes called oil-droplet keratopathy)

Answer 340

Common disorder - progressive thinning and ectasia of cornea *no inflammation or vascularization; results in cornea with conical rather than spherical shape; irregular astigmatism that is difficult to orrect; need rigid contact lenses OR corneal transplant; typically b/l; *associated with Downs, Marfan, atopic disorders (eye rubbing)

Answer 341

Thinning of cornea w/ breaks in bowman layer; Descemet membrane can sometimes rupture allowing aqueous humor in ant chamber to gain access to corneal stroma = corneal hydrops; can cause scarring; seen w/infantile glaucoma (haab striae) or forceps injury to eye

Answer 342

Results from loss of endothelial cells and results in edema and thickening of stroma; *indicator for corneal transplant; 2 clinical manifestations - stroma edema and bullous keratopathy; early on, endo cells produce deposits of abnormal BM (guttata) that resembles fetal component of Descemet mem; ground-glass appearance of stroma; undergoes hydropic change and detachment of bowman from epithlium produces epithelial bull are that can rupture; fibrous tissue can be deposited btw epithlium and bowman (degenerative pannus)

Answer 343

Similar to Fuchs endothelial dystrophy but caused by cataract surgery (decreases # of endothelial cells)

Answer 344

Stromal deposits generate opacity in cornea that can compromise vision; can result in painful erosions; an example is caused by mutation in TGFB1 gene which encodes keratoepithelin

Answer 345

Anteriorly by cornea, laterally by trabecular meshwork, posteriorly by the iris

Answer 346

Pars plicata of the ciliary body -> enters posterior chamber, bathes the lens, and circulates through the pupil to gain access to anterior chamber (post chamber is behind iris and in front of lens)

Answer 347

Lenticular opacity that can be congenital or acquired

Answer 348

- systemic dz: galactosemia, DM, Wilson, atopic dermatitis - drugs: corticosteroids - radiation - trauma - intraocular disorders - age related: results from opacification of lens nucleus (nuclear sclerosis); accumulation of urochrome can render nucleus brown and distort perception of blue color

Answer 349

Lens cortex can liquify; migration of lens epithelium posteriorly can cause post subcapsular cataract secondary to enlargement of lens epithelium

Answer 350

Extracts lens contents, leaving lens capsule intact (extracapsular cataract extraction); prosthetic intraocular lens is usually inserted

Answer 351

When lens cortex liquefies completely; high molecular weight proteins can leak through he lens capsule (phacolysis) and can clog trabecular meshwork and contribute to elevated intraocular pressure and optic n damage; phacolytic glaucoma is an example of secondary open-angle glaucoma

Answer 352

Trabecular meshwork located at the angle formed by the intersection btw corneal periphery and anterior surface of iris

Answer 353

- open-angle: aqueous humor has completely physical access to trabecular meshwork and elevation in pressure results from increased resistance to aqueous outflow in open angle - angle-closure: peripheral zone of iris adheres to trabecular meshwork and physically impedes flow of aqueous humor from the eye

Answer 354

Most common form; angle is open and few changes seen structurally; mutations in myocilin (MYOC) gene have been associated with juvenile and adult primary open-angle glaucoma; mutations in optineurin (OPTN) may also be responsible for this in adults

Answer 355

-pseudoexfoliation glaucoma (most common form) is associated w/ deposition of fibrillation material through ant segment; SNP in Lysyl oxidase like 1 gene (LOX1); deposits also seen in liver, kidney, and GB

Answer 356

High molecular weight lens proteins produced by phacolysis, senescent red cells after trauma (ghost cell glaucoma), iris epithelial pigment granules (pigment are glaucoma) and necrotic tumors (melanomalytic glaucoma); all secondary open-angle; also caused by elevations in pressure on surface of eye (episcleral venous pressure) - assoc w/ surface ocular vascular malformations such as sturgeweber syndrome

Answer 357

Develops in eyes w/ shallow anterior chambers (often in ppl w/hyperopia) pupillary margin of the iris moves against he anterior surface of the lens and obstructs flow through the pupillary aperture (pupillary block) this may bow the iris forward (iris bombe); can damage lens epithelium b.c receives nutrition from aqueous humor; causes glaukomflecken (anterior subcapsuar opacities)

Answer 358

- Chronic retinal ischemia: up regulation of VEGF; induces development of thin, transparent fibrovascular membranes over surface of iris; contraction of these lead to occlusion of trabecular meshwork by the iris (neovascular glaucoma) - necrotic tumors (RB) induce iris neovascularization and glaucoma - tumors in ciliary body

Answer 359

During intraocular inflammation, vessels in ciliary body and iris become leaky and form exudate in anterior chamber; inflamm cells can adhere to corneal endothelium forming keratic precipitates; can inform of the underlying cause of inflamm (ie: mutton-fat precipitates indicative of sarcoid)

Answer 360

Adhesions between iris and trabecular meshwork or cornea (anterior synechiae - can lead to increase in intraocular pressure and optic n damage) or btw iris and anterior surface of lens (posterior synechiae - can induce fibrous metaplasia of lens epithelium called anterior subcapsular cataract)

Answer 361

To prevent formation of synechiae

Answer 362

Inflammation in vitreous humor; suppurative inflammation is poorly tolerated by retina; few hours can cause irreversible retinal injury; classified as exogenous (originating in environment and gaining access to interior of eye through a wound) or endogenous (delivered to the eye through the blood)

Answer 363

Inflammation within the eye that involves the retina, choroid, and sclera and extends to the orbit

Answer 364

Iris, choroid and ciliary body

Answer 365

Any type of inflammation in one or more tissues that compose the uvea

Answer 366

Common complication of sarcoidosis; in anterior segment gives rise to exudate that evolves into mutton fat; in posterior segment may involve choroid and retina; *candle wax drippings on opthalmoscopic exam; use conjunctival biopsy to detect granulomatous inflammation and confirm diagnosis

Answer 367

Toxoplasmosis; individuals with AIDS can develop CMV retinitis and unreal infection such as pneumocystis or mcobacterial choroiditis

Answer 368

Example of non infectious uveitis limited to eye; b/l granulomatous inflammation affecting all components of uvea (panuveitis); can complicate penetrating injury of eye; retinal antigens may gain access to lymphatics and set a delayed hypersensitivity rxn that affects both eyes; can develop 2 wk to many years after injury; eosinophils identified; treated with immunosuppressive agents

Answer 369

Metastasis to uvea, typically the choroid; associated with extremely short survival

Answer 370

Uveal melanoma; no association btw exposure to UV light and increased risk; GNAQ and GNA11 encode GPCRs - GOF mutations; uveal nevi are associated w/ these mutations yet rarely transform to melanoma, indicating other involvement of genetic events (ie: loss of chrom 3 which leads to deletion of BAP1)

Answer 371

Contain 2 types of cells: spindle (fusiform) and epitheliod (spherical and greater cytological atypicality); distinct feature: looping slit-like spaces lined by laminin that surround packets of tumor cells -> connect to bv and serve as extravascular conduits for transport of plasma and blood (promoted by vasculogenic mimicry); spread exclusively by blood first to liver)

Answer 372

Size (lateral extent), cell type (those containing epithlelioid have worse prognosis), proliferating index

Answer 373

Radiotherapy

Answer 374

Those that are situated in ciliary body and choroid - the iris has milder course

Answer 375

Usually worse

Answer 376

Diencephalon

Answer 377

Nerve fiber layer: horizontal flames | External: dots (tips of cylinders)

Answer 378

Outer plexiform layers, especially in the macula

Answer 379

Separation of neurosensory retina from the retinal pigmented epithelium; RPE maintains outer segments of photoreceptors; disturbances of RPE-photoreceptor interface implicated in hereditary retinal degenerations such as retinitis pigmentosa

Answer 380

No, incomplete regression of fetal vasculature can produce persistent hyper plastic primary vitreous (retrolental mass)

Answer 381

Liquification and collapse of vitreous humor

Answer 382

Usually due to age, posterior face of vitreous humor called the posterior hyaloid can separate from the neurosensory retina

Answer 383

Full thickness retinal defect; retinal tears can happen after vitreous collapses and posterior hyaloid exerts traction on points adhered to retinal internal limiting membrane; liquified vitreous humor seeps into tear and flows in btw retina and RPE; re-attachment requires relief of vitreous traction through indenting the sclera via putting strips of silicon on surface of eye (sclera bulking) and removal of. Vitreous material (vitrectomy)may be complicated by proliferative vitreoretinopathy (formation of epiretinal membranes by Muller cells)

Answer 384

Retinal detachment without retinal break; may complicate retinal vascular disorders assoc w/ exudation and any condition that damages the RPE and permits fluid to leak from choroidal circulation under the retina; *choroidal tumors and malignant HTN are examples

Answer 385

Vessels are narrowed and color of blood column may change from bright red to copper or silver; arteriole can compress the vein

Answer 386

Focal choroidal infarcts caused by malignant HTN

Answer 387

Macular star - spokelike arrangement of exudate in the macula; results from exudate accumulating in the outer plexiform layer that is orientated obliquely

Answer 388

Occlusion of retinal arterioles produces infarcts of nerve fiber layer of retina; accumulation of mitochondria at swollen ends of the damaged axons creates illusion of cells called cytoid bodies ; seen opthalmoscopically as cotton-wool spots; can develop with HTN or with AIDS

Answer 389

Thickening of BM of the epithelium of pars plicata of ciliary body

Answer 390

Changes resulting from structural and functional abnormalities of retinal vessels; BM of bv is thickened; number of pericytes diminishes; *microaneurysms; breakdown of blood-retinal barrier -> macular edema (vision loss); exudate production;

Answer 391

New vessels sprouting on surface of optic n (neovascularization of the disc) or the surface of the retina (neovascularization elsewhere) “retinal neovascularization” only used when breaches internal limiting membrane of retina; forms neovascular membrane; if vitreous humor separates can cause massive hemorrhage; scarring can wrinkle retina and produce visual distortion

Answer 392

At term, lateral (temporal) retinal periphery is incompletely vascularization; in premature infants treated w/ oxygen, retinal vessels constrict and cause ischemia in temporal region; unregulates VEGF leading to angiogenesis; contraction of resulting peripheral retinal neovascular membrane can drag the temporal aspect toward periphery zone, displacing the macula laterally; can cause retinal detachment

Answer 393

- nonproliferative (intraretinal angiopathic changes); occurs in patients with hemoglobin SS and SC genotypes; vascular occlusion contributes to hemorrhages, resolution of which gives rise to salmon patches, iridescent spots, and black sunburst lesions; can also lead to angiogenesis which gives risk to “sea-fans” or neovascularization of the periphery - proliferative (neovascularization) * common pathway in both types is vascular occlusion

Answer 394

Fragments of atherosclerotic plaques that lodge within the retinal circulation; when infarcted, retina swells and becomes opaque; fungus will appear white b/c the choroid is blocked

Answer 395

Diffuse infarcts of the retina; following acute occlusion, retina appears opaque, cherry-red spots seen b/c fovea is thin and choroid is visible

Answer 396

VEGF unregulated leading to neovascularization of iris and angle-closure glaucoma; non-ischemic retinal v occlusion leads to hem, exudate, and macular edema, but rarely retinal or iris neovascularization

Answer 397

Retinal ganglion; this blocks transmission of orange-red color of fovea

Answer 398

Wet: neoangiogeneis Dry: no neoangiogenesis; diffuse deposits in bruch membrane (drusen) and atrophy of the RPE; loss of vision severe

Answer 399

CFH (complement factor H) - decreases function; excess complement activity plays a role in AMD

Answer 400

Cigarette smoking and intense light exposure

Answer 401

Inherited condition resulting from mutations that affect rods and cones or RPE; can cause visual impairment and blindness; NOT inflammatory; x-linked, AR or AD (age of onset correlates with inheritance pattern - AD later in life); can be part of a syndrome (Bardet-Biedl, usher, or refsum dz) or develop in isolation

Answer 402

Genes the regulate the function of photoreceptors or RPE; both rods and cones are lost due to apoptosis ; retinal atrophy is accompanied by constriction of retinal vessels and optic n atrophy (waxy pallor of optic disc) and accumulation of retinal pigment around bv

Answer 403

Candida (esp in IV drug abuse or systemic candidemia); causes retinal abscesses; CMV in AIDS patients

Answer 404

Neuronal progenitor

Answer 405

Pinealoblastoma (trilateral retinoblastoma) *dismal outcome

Answer 406

In both hereditary and sporadic forms, can contain both undifferentiated and differentiated elements (former appear as small, round cells w/ hyperchromatic nuclei); in well-diff tumors, there are flexner-wintersteiner rosettes and fluerettes (photoreceptors differentiation); degree of differentiation does not correlate w/ prognosis; focal zones of dystrophic calcification are characteristic

Answer 407

Brain and bone marrow

Answer 408

Extraocular extension and invasion along the optic n and choroidal invasion

Answer 409

Premalingmant lesions; appearance of RB in one eye and retinocytoma in the other eye is characteristic of heritable RB

Answer 410

Aggressive tumor that characteristically involves 2 retinal layers derived from brain (neurosensory retina and RPE); tends to occur in older ppl; spread to the brain occurs via optic n; diagnosis depends on demonstration of lymphoma cells in vitreous aspirates

Answer 411

Gliomas (usually pilocytic astrocytomas) and meningiomas

Answer 412

Includes spectrum of injuries to optic n; optic n cannot regenerate so damage is permanent

Answer 413

- compression of the n (by primary neoplasm -> unilateral disc edema) - elevations in CSF pressure surrounding the n (b/l disc edema); papilledema * leads to venous stasis and interferes w/ axoplasmic transport

Answer 414

Swollen and hyper epic; *optic n head in AION appears swollen and pale

Answer 415

Glaucoma w/ normal intraocular pressure;

Answer 416

Diffuse loss of ganglion cells and thinning of retinal n fiber layer; in advanced cases, optic n is cupped and atrophic (*unique to glaucoma); in infants and children, can lead to enlargement of the eye (buphthalmos) or cornea (megalocornea); in adult, can lead to focal thinning of sclera and uveal tissue may line ecstatic sclera (staphyloma)

Answer 417

Results from inheritance of mitochondrial gene mutations; neuronal health is dependent on axoplasmic transport of mitochondria; males are affected more; begins with clouding of vision that can progress to total vision loss

Answer 418

Describes loss of vision secondary to demyelinization of optic n *MS most impt cause

Answer 419

Eye that is small (atrophic) and internally disorganized; can result from trauma, intraocular inflammation, chronic retinal detachment and other conditions; different from congenitally small eyes (hypoplastic or microphthlamic eyes) b/c they are not disorganized; typically show changes: presence of exudate or blood btw ciliary body and sclera and the choroid and sclera (ciliochoroidal effusion), membrane extending across eye from one part of ciliary body to another (cyclonic membrane), chronic retinal detachment, optic n atrophy, intraocular bone (osseous metaplasia of RPE), thickened sclera (esp posteriorly); low intraocular pressure (hypotony) -> square rather than round eye

Answer 420

Sarcoidosis or neoplasm (lymphoma, pleomorphic adenoma, adenoid cyst)

Answer 421

Reactive lymphoid hyperplasia

Answer 422

Systemic condition

Answer 423

Wegener granulomatosis

Answer 424

Schwann cell

Answer 425

Schwannomas, neurofibromas, malignant peripheral nerve sheath tumor (MPNST)

Answer 426

Association w/ familial tumor syndromes (NF and schwanomatosis); MPSNT seen in context of NF1 thought to arise from malignant transformation of pre-existing benign plexiform neurofibromas (unusual for soft tissue tumors)

Answer 427

Benign tumors that exhibit Schwann cell differentiation and arise from peripheral nerves; component of NF2 (even sporadic assoc w/ loss of NF2 on chrom 22); loss of Merlin (normally restricts production of growth factor receptors)

Answer 428

Well-circumscribed, encapsulated that do not invade nerve; gray

Answer 429

The one in area postrema that triggers vomiting

Answer 430

Awareness and memory; RAS

Answer 431

A- ionotropic | B- metabotropic

Answer 432

Only inotropic

Answer 433

Low protein, glucose and potassium; magnesium is higher

Answer 434

Area postrema, ovlT and sub-fornical organ, posterior pituitary

Answer 435

Sleep/wake cycles; volition, consciousness may not be present

Answer 436

Medullary reticular activating system and parabrachial nuclei; glutamate (through thalamus - dorsal path and bypassing thalamus - ventral path)

Answer 437

Bare nerve endings, slightly myelinated (A delta) or unmyelinated (C); activated by bradykinin or substance P -> sensitization

Answer 438

A - spinothalamic path for fast sharp pain | C: spinoreticulothalamic path for slow dull pain

Answer 439

Inability to move eyes together or focus; also detection of motion and initial processing

Answer 440

Create a contour map

Answer 441

V2: depth perception V4: color perception

Answer 442

Dorsal : use of visual info in motion | Ventral: higher cognitive processing using visual info (naming objects)

Answer 443

Perilymph similar to ECF (high sodium, low potassium); endo is opposite

Answer 444

Short wavelengths, high frequency; maximal bending close to oval window

Answer 445

Localization of sound; medial detects intra0=-aural time diff and lateral detects intra-aural volume diff

Answer 446

Inferior: suppresses info from echoes Superior: creates 3D map of where sound is

Answer 447

Utricle: horizontal motion Saccule: vertical motion

Answer 448

Ia: sensors length and rate of change II: just length

Answer 449

Activation by the cortex; if you have damage to cortex, will result in spasticity because cannot activate inhibitory region

Answer 450

Medial: posture Lateral: correct ongoing motions

Answer 451

Eye movements and postural movements for future motions

Answer 452

Dopamine from substantia Nigra -> D1 receptors -> activates them -> allows motion

Answer 453

Ach activates GABAergic input; when active it inhibits motion; to inhibit indirect pathway dopamine binds to D2 -> inhibits neuron of indirect pathway

Answer 454

Loss of indirect pathway results in excessive motio n

Answer 455

Cerebellum and nucleus accumbens

Answer 456

Explicit; conscious recognition of learned facts and experiences; two types: episodic (events) and semantic (words, language and rules)

Answer 457

High-frequency discharge from pre-synaptic neuron increases changes of action potential in the post synaptic cell

Answer 458

Series of changes in the pre and post synaptic neurons that leads to increased response to released NT; usually follows strong stimulation

Answer 459

-Calcium activating calmodulin -> increases adenylyl Cyclades -> phosphor of AMPA -> increased sodium flux -calcium binding to calcineurin -> activation of NO synthase -> NO increases cGMP and increases NT release Also assoc w/ gene transcription with CREB

Answer 460

NT synthetic enzymes, NT receptors, proteins required for growth/synapse formation

Answer 461

Encoding, storage, consolidation, retrieval

Answer 462

Hippocampus, parahippocampal cortex, prefrontal cortex; also interconnections to neocortex and amygdaloid via nucleus basalis of meynert (cholinergic projection - target in AD)

Answer 463

Hippocampus, temporal lobes, papez circuit; hypothalamus/mamm bodies -> anterior thalamus -> cingulate cortex -> hippocampus

Answer 464

Neocortex, parahippocampal regions, hippocampus; info. Related to each component is sent to parahippocampal region -> hippocampus where memory is reconstructed -> cortex via the parahippocampus (***impt in prolonging life of memory)

Answer 465

Prefrontal cortex

Answer 466

Brocas and wernickes

Answer 467

Occipital Cortex associated with vision

Answer 468

Hippocampus use it pyramidal cells in CA1 known as place cells; anchor for reconstruction of memory; only activated at specific places

Answer 469

- Grid cells: entorhinal corex, create map of place you are in; triangular or hexogonal grid - head direction cell - border neurons

Answer 470

When you are IN an area

Answer 471

Seen in schwannomas; A is dense eosinophilia with spindle cells arranged into fascicles; palisading of nuclei is common and nuclear free zones are termed verocay bodies; B loose hypocellular areas, spindle cells spread apart by myxoid ECM

Answer 472

Benign nerve sheath tumors that are more heterogenous in composition than schwannomas; either NF-1 associated or sporadic

Answer 473

- superficial cutaneous: present as pedunculated nodules that can be isolated if sporadic or multiple if associated with NF-1 - Diffuse: present as large plaque like elevation of the skin and associated with NF-1 - Plexiform: found in deep or superficial locations in association with nerve roots or large nerves; uniformly NF-1 associated

Answer 474

Schwann cells; only ones that show loss of NF-1

Answer 475

Tumor suppressor that inhibits RAS activity by stimulating GTPase

Answer 476

KIT ligand produced by schwanna cells; in response secrete factors that stimulate schwann cell growth

Answer 477

Small, well-delineated by unencapsulated nodular lesions; arise in dermis and subcutaneous fat; contain schwanna cells, stromal cells (mast), perineurial cells, CD34 spindle cells and fibroblasts

Answer 478

Infiltrates the dermis and subcutaneous connective tissue; entrap fat and appendage structures and produces plaque-like appearance; focal collections of cells mimic appearance of Meissen corpuscles (tactile-like bodies)

Answer 479

Grow within and expand n fascicles; entrap assoc axons; encapsulated appearance; “bag of worms” appearance; contains collagen that looks like “shredded carrot”

Answer 480

Larger peripheral nerves in chest, abdomen, pelvis, neck or limb girdle

Answer 481

Marbelized appearance; mitosis, necrosis and nuclear aplasia; poorly defined; *divergent differentiation - presence of focal areas that exhibit other lines of differentiation *Triton tumor: when shows rhabdomyoblastic morphology areas

Answer 482

AD; associated with neurofibromas, MPNST, gliomas of pitc n, haramartomatous lesions, and pheochromocytoma; mental retardation and seizures; skeletal defects pigmented nodules of iris (lisch) and cafe au lait; LOF in NF-1; neoplastic cells lack neurofibromin; high penetrance but variable expressitivity

Answer 483

AD; b/l 8th n schwannomas and multiple meningiomas; ependymomas of SC; schwannomas, meningioangiomatosis and glial hamartomas; less common; located on chrom 22; Merlin regulates receptor signaling; nonsense and frameshift mutations more severe than missense.

Answer 484

Less buffering so it senses even small ph changes

Answer 485

Aka lateral medullary syndrome; alternative hemianelgesia (ipsilateral face and contralateral body); *descending tract of V and spinal nucleus (swallowing difficulty b/c o nucleus ambiguus)

Answer 486

Lesion to midbrain tegmentum; causes oculomotor palsy, ext strabismus, complete pots is, no spastic hemiplegia; affects AL, TL, and ML; involves red nucleus -> tremor at rest or intention tremor if lesion of cerebellar efferent

Answer 487

Weird sensations on 1/2 of body

Answer 488

Lesion at pontomedullary junction; internal strabismus (VI), incomplete closure of eye (Bell’s palsy), hemoplegia of opposite limb (corticospinal tract)

Answer 489

SNF palsy; hemianalgesia and anesthesia proprioception absence from 1/2 of face and body; spastic hemiplegia

Answer 490

Paracentral lobule

Exam 2 Flashcards

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