Ch 17 Pathoma CNS Pathology

Question 1

Neural tube defects arise from ___ of the neural tube. The ___ invaginates early in gestation to form the neural tube, which runs along the ___ axis of the embryo. The wall of the tube forms the ___, the hollow lumen forms the ___, and the neural crest forms the ___.

Answer 1

incomplete closure; neural plate; cranial-caudal; CNS tissue; ventricles and spinal cord canal; peripheral nervous system

Question 2

Neural tube defects are associated with low ___ levels. When with regards to conception? A neural tube defect can be detected during prenatal care by elevated ___ levels in the __ and ___.

Answer 2

folate; prior; AFP; amniotic fluid; maternal blood

Question 3

____ is the absence of the skull and brain (disruption of the cranial end of the neural tube). It leads to a __-like appearance of the fetus.

Answer 3

Anencephaly; frog-like

Question 4

Anencephaly is the absence of __ and __. It results in maternal ____, since fetal ___ of ___ is impaired

Answer 4

skull; brain; polyhydramnios; swallowing; amniotic fluid (fetus can’t swallow because no brain for swallow reflex)

Question 5

Spina bifida is failure of the ____ to close, resulting in a vertebral defect (disruption of the caudal end of the neural tube). It presents with ___ protrusion of the underlying tissue through the vertebral defect. Name the 2 main types

Answer 5

posterior vertebral arch; cystic; meningocele (protrusion of the meninges); meningomyelocele (protrusion of the meninges and spinal cord)

Question 6

Spina bifida occulta presents as a ___ or ___ overlying the vertebral defect

Answer 6

dimple; patch of hair

Question 7

Name the neural tube defect associated with disruption in cranial end of the neural tube and caudal end.

Answer 7

anencephaly; spina bifida

Question 8

Cerebral aqueduct stenosis is congenital/acquired stenosis of the channel that drains CSF from the ___ into the ___. This leads to accumulation of CSF in the ventricular space = ____. It presents with ___.

Answer 8

congenital; 3rd ventricle; 4th ventricle; hydrocephalus; enlarging head circumference (due to dilation of ventricles, cranial suture lines are not fused)

Question 9

What is the most common cause of hydrocephalus in newborns?

Answer 9

Cerebral aqueduct stenosis

Question 10

CSF is produced by the ___, which lines the ___. It flows from the lateral ventricles into the 3rd ventricle via the _____. Flows from the 3rd into the 4th via the ____. Flows from the 4th into the subarachnoid space via the ___.

Answer 10

choroid plexus; ventricles; interventricular foramen of Monro; cerebral aqueduct (sylvius); foramina of Magendie and Luschka

Question 11

Dandy-Walker malformation is a congenital failure of the ___ to develop. It presents as a massively dilated ____, with an absent ___, often accompanied by ___.

Answer 11

cerebellar vermis (which separates the 2 sides of the cerebellum); 4th ventricle; cerebellum; hydrocephalus

Question 12

Arnold-Chiari malformation (type 2) is a congenital downward displacement of ___ and __ through the ___. Can cause obstruction of ___ resulting in ____. It is often associated with ____.

Answer 12

cerebellar vermis; tonsils; foramen magnum; CSF flow; hydrocephalus; meningomyelocele

Question 13

Which disease is causes a downward displacement of the cerebellar vermis and tonsils and which disease is a failure of the vermis to develop? (both are congenital)

Answer 13

Arnold-chiari malformation (type 2); Dandy-Walker malformation

Question 14

____ is cystic degeneration of the spinal cord. It usually arises with ___ or in associated with ____. Usually occurs at spinal cord level ___.

Answer 14

Syringomyelia; trauma; type 1 Arnold-Chiari malformation; C8-T1 (upper extremities)

Question 15

Syringomyelia presents as sensory loss of ___, with sparing of ___. It has a __-like distribution. It is due to involvement of the ____ of the ___ tract with sparing of the ___.

Answer 15

pain and temperature; fine touch and position sense; cape; anterior white commisure; spinothalamic (anterolateral); dorsal column
(syringomyelia is cystic degeneration of the spinal cord)

Question 16

In addition to syringomyelia affecting the spinothalamic tract, it can involve the ___ causing upper/lower motor neuron damage (name 5 symptoms), and the ___ of the ____ tract causing Horner syndrome (name 3 symptoms)

Answer 16

anterior horn; lower; muscle atrophy, weakness, fasciculations, hypotonia, hyporeflexia; lateral horn; hypothalamospinal tract; ptosis; miosis; anhidrosis

(occurs when syrinx expands)

Question 17

Poliomyelitis is damage to the ___ due to __ infection. It presents with ___ signs (name 5) and a positive/negative Babinski’s sign.

Answer 17

anterior motor horn; poliovirus; lower motor neuron; 1) flaccid paralysis with muscle atrophy; 2) fasciculations; 3) weakness; 4) hypotonia; 5) hyporeflexia

Question 18

____ is an inherited degeneration of the anterior motor horn. It is autosomal/x-linked dominant/recessive. Presents as a “___” and death occurs within a few weeks/months/years after birth.

Answer 18

Werdnig-Hoffman disease; autosomal recessive; floppy baby; years

Question 19

Amytrophic lateral sclerosis is a ___ disorder of upper/lower motor neurons of the ___ tract.

Answer 19

degenerative; upper AND lower; corticospinal tract

Question 20

In ALS, anterior motor horn degeneration leads to upper/lower motor neuron signs (name 5). Lateral corticospinal tract degeneration leads to upper/lower motor neuron signs (name 4)

Answer 20

lower; 1) flaccid paralysis with muscle atrophy; 2) fasciculations; 3) weakness; 4) hypotonia; 5) hyporeflexia; upper; 1) spastic paralysis; 2) hyperreflexia; 3) hypertonia; 4) positive Babinski’s sign

Question 21

___ and ___ of hands is an early sign of ALS. What distinguishes it from syringomyelia? Most cases are inherited/sporadic arising in ___.

Answer 21

Atrophy; weakness; lack of sensory impairment (syringomyelia has loss of pain and temp); sporadic; middle age adults

Question 22

While ALS mostly arises sporadically, ___ mutation is present in some familial cases, which leads to ___ in neurons.

Answer 22

zinc-copper superoxide dismutase (SOD1); free radical injury in neurons

Question 23

____ is a degenerative disorder of the cerebellum (leading to ___) and the spinal cord. It presents when in someone’s life? Patients are wheelchair bound within a few weeks/months/years after diagnosis. It is associated with ____.

Answer 23

Friedreich ataxia; ataxia; early childhood; years; hypertrophic cardiomyopathy

Question 24

In Friedreich ataxia there is degeneration of multiple spinal cord tracts leading to these 3 symptoms, and degeneration of cerebellum leading to ___.

Answer 24

loss of vibratory sense and proprioception; muscle weakness in lower extremities; loss of deep tendon reflexes; ataxia

Question 25

Friedreich ataxia is a autosomal/x-linked dominant/recessive, and due to an expansion of an unstable trinucleotide repeat (___) in the __ gene. This gene is essential for ____, and its loss results in __ buildup with ___ damage (via the __ rxn).

Answer 25

autosomal recessive; GAA; frataxin; mitochondrial iron regulation; iron; free radical; Fenton

Question 26

Which spinal cord lesion is associated with hypertrophic cardiomyopathy?

Answer 26

Friedreich ataxia

Question 27

Meningitis is inflammation of the ___, made up of the __ and ___. Name the 3rd meninge. Diagnosis of meningitis is made by ___ and subsequent ___

Answer 27

leptomeninges; pia; arachnoid; dura (leptomeninges means light; dura for durable); lumbar puncture and sampling the CSF

Question 28

Meningitis is commonly due to a ___ agent. Name the 3 most common in neonates, the most common in children and teenagers, the most common in adults and elderly, and the most common in non-vaccinated infants

Answer 28

infectious; 1) group B strep, E coli, listeria monocytogenes; 2) N meningitidis (enters through nasopharynx then into blood then leptomeninges); 3) strep pneumo; 4) H influenza

Question 29

Name the most common viral cause for meningitis in children. Name the most common cause of meningitis seen in immunocompromised

Answer 29

coxsackie virus (fecal-oral transmission); fungi

Question 30

Meningitis presents with this classic triad. It can also present with these 3 other symptoms

Answer 30

headache, nuchal rigidity (neck stiffness), fever; photophobia (especially viral); vomiting; altered mental status

Question 31

Lumbar puncture is done by placing needle between these 2 vertebrae (level of the ___). the spinal cord ends at __, but subarachnoid space and cauda equine continue to ___

Answer 31

L4 and L5; iliac crest; L2; S2

Question 32

During an LP, the needle must pass these 5 layers. It will not pierce the ___.

Answer 32

skin, ligaments, epidural space, dura, and arachnoid; pia

Question 33

Describe the type of cell present and the relative level of CSF glucose in bacterial, viral, and fungal meningitis. Normal CSF glucose is ___ of the serum glucose

Answer 33

1) neutrophils w/decreased CSF glucose (bacteria consume it); 2) lymphocytes with normal glucose; 3) lymphocytes w/decreased glucose (fungi consume it); 2/3

Question 34

Complications of meningitis are usually seen with viral/bacterial/fungal meningitis. Name 2 and why it occurs

Answer 34

bacterial; death (herniation secondary to cerebral edema); hydrocephalus, hearing loss, seizures (2ndary to fibrosis - damages nerves as they exit, scars surface of brain)

Question 35

Cerebrovascular disease is a ___ deficit due to cerebrovascular ___. It is a major cause of morbidity and mortality. It can be due to ___ (85% of cases) or ___ (15% of cases).

Answer 35

neurologic; compromise; ischemia; hemorrhage

Question 36

Neurons are dependent on serum ___ as an essential energy source and are particularly susceptible to ___ (undergo ___ within 3-5 mins)

Answer 36

glucose; ischemia; necrosis

Question 37

Name 4 causes of global cerebral ischemia and an example

Answer 37

1) low perfusion (e.g. atherosclerosis); 2) acute decrease in blood flow (e.g. cardiogenic shock); 3) chronic hypoxia (e.g. anemia); 4) repeated episodes of hypoglycemia (e.g. insulinoma)

Question 38

Clinical features of global cerebral ischemia are based on __ and __ of the insult. Can be mild, moderate or severe. Mild results in transient ___ with/without recovery. Severe results in ___, and survival (rare) leads to a __.

Answer 38

duration; magnitude; confusion; with (prompt); diffuse necrosis; vegetative state

Question 39

Moderate global ischemia leads to infarcts in ____ and damage to highly vulnerable regions such as these 3

Answer 39

watershed areas; 1) pyramidal neurons of the cerebral cortex (layers 3, 5, and 6 - leads to laminar necrosis); 2) pyramidal neurons of the hippocampus (temporal lobe - impt in long term memory); 3) purkinje layer of the cerebellum (integrates sensory perception w/motor control)

Question 40

Ischemic stroke is global/regional ischemia to the brain that results in global/focal neurologic deficits lasting __ hours. Transient ischemic attack (TIA) lasts __ hours.

Answer 40

regional; focal; greater than 24; less than 24

Question 41

Name 3 subtypes of ischemic strokes

Answer 41

thrombotic; embolic; lacunar

Question 42

Thrombotic stroke is due to ____. Embolic stroke is due to ___. Lacunar stroke occurs secondary to ___, a complication of ___.

Answer 42

rupture of an atherosclerotic plaque; thromboemboli; hyaline arteriolosclerosis; hypertension

Question 43

Which subtype of ischemic stroke results in a pale infarct in the periphery of the cortex?

Answer 43

Thrombotic (if clot is lysed, a new one will form due to rupture of plaque)

Question 44

Which subtype of ischemic stroke results in a hemorrhagic infarct at the periphery of the cortex?

Answer 44

Embolic (clot gets lysed quick, and then you get bleeding in peripheral cortex)

Question 45

Atherosclerosis usually develops at __ points (name 1 example). Rupture of atherosclerotic plaque can cause a thrombotic stroke and lead to a __ infarct at the ___ of the cortex.

Answer 45

branch; bifurcation of internal carotid and middle cerebral in the circle of Willis); pale; periphery

Question 46

The most common source of embolic stroke is the ___ (give an example). It usually involves the ___ artery. It results in a ___ infarct at the ___ of the cortex

Answer 46

left side of the heart; atrial fibrillation; middle cerebral; hemorrhagic; periphery

Question 47

Lacunar strokes most commonly involves ___ vessels, resulting in ___ areas of infarction. Involvement of the ___ leads to a pure motor stroke. Involvement of the ___ leads to a pure sensory stroke.

Answer 47

lenticulostriate (branch of the MCAs); small cystic; internal capsule; thalamus

Question 48

Ischemic stroke results in __ necrosis. 12 hours after infarction you can see this microscopic change. What do you see in 24 hours, 1-3 days, 4-7 days, and 2-3 weeks

Answer 48

liquefactive; red neurons; 24: necrosis; 1-3: infiltration by neutrophils; 4-7: microglial cells (macrophages); 2-3wks: gliosis (made up of astrocytes)

Question 49

In liquefactive necrosis, the result is the formation of a ____ space surrounded by ___.

Answer 49

fluid-filled cystic; gliosis

aka gliotic cyst

Question 50

After ischemic stroke, when does gliosis occur? Red neurons? Microglial cells? Necrosis? Infiltration by neutrophils?

Answer 50

Gliosis: 2-3 wks; Red neurons: 12hrs; Microglial (aka macrophages): 4-7 days; Necrosis: 24hrs; Neutrophils: 1-3 days

Question 51

Intracerebral hemorrhage (hemorrhagic cerebrovascular disease) causing bleeding into ___. Classically due to rupture of ___ of the ___ vessels. ___ is the most common site.

Answer 51

brain parenchyma; Charcot-Bouchard microanuerysms; lenticulostriate vessels; basal ganglia

Question 52

Rupture of Charcot Bouchard microaneurysms is seen in ____. It is a complication of ___, and tx of it reduces the incidence by half.

Answer 52

intracerebral hemorrhage; hypertension

Question 53

Intracerebral hemorrhage presents with these 4 symptoms

Answer 53

severe headache, nausea, vomiting, and eventual coma

Question 54

Subarachnoid hemorrhage is bleeding into the ____. It presents as a sudden ___ with ___. LP shows ____ (yellow hue due to ___).

Answer 54

subarachnoid space; headache (worse of life); nuchal rigidity; xanthochromia; bilirubin

Question 55

Subarachnoid hemorrhage is most frequently (85%) due to rupture of a ____. Name 2 other causes

Answer 55

berry aneurysm; AV malformation; anticoagulated state

Question 56

Berry aneurysms are thick/thin-walled saccular outpouchings that lack a ___ layer, increasing the risk for ___. Most frequently located in the ___ at branch points the ___ artery. It is associated with these 2 diseases.

Answer 56

thin; media; rupture; anterior circle of Willis; anterior communicating artery; Marfan syndrome; autosomal dominant polycystic kidney disease (ADPKD)
(berry aneurysms cause subarachnoid hemorrhage)

Question 57

Epidural hematoma is a collection of blood between the __ and ___. It is classically due to ___ of the ___ bone with rupture of the ___ artery.

Answer 57

dura; skull; fracture; temporal; middle meningeal

bleeding separates the dura from the skull

Question 58

What does an epidural hematoma look like on CT? Subdural hematoma?

Answer 58

lens shape; crescent shape

Question 59

In which type of hematoma is there often a lucid interval which precedes neurologic signs? (aka ____ syndrome)

Answer 59

epidural hematoma; talk and die

Question 60

What is a lethal complication of both subdural and epidural hematomas?

Answer 60

herniation

Question 61

Subdural hematoma is a collection of blood underneath the ___. Blood covers the ___. It is due to a tearing of ___ that lie btwn the dura and arachnoid. These usually occur due to ___, and present with progressive ___.

Answer 61

dura; surface of the brain; bridging veins; trauma; neurologic signs

Question 62

There is an increased rate of subdural hematomas in the ____ due to __-related cerebral atrophy, which stretches the veins

Answer 62

elderly; age

Question 63

Name 3 types of brain herniation (discussed in pathoma)

Answer 63

Tonsillar (cerebellar tonsils), subfalcine (cingulate gyrus under the falx cerebri), uncal (uncus under the tentorium cerebelli)

Question 64

Herniation is displacement of brain tissue due to ___ or ___.

Answer 64

mass effect; increased intracranial pressure

Question 65

Tonsillar herniation involves displacement of the ___ into the ___. It causes compression of the __ and can lead to ___.

Answer 65

cerebellar tonsils; foramen magnum; brain stem; cardiopulmonary arrest

Question 66

Subfalcine herniation involves displacement of the ___ under the ___. Compression of the ___ leads to infarction

Answer 66

cingulate gyrus; falx cerebri; anterior cerebral artery

Question 67

Uncal herniation involves displacement of the ___ under the ___. Can lead to these 3 compressions and outcomes.

Answer 67

temporal lobe uncus; tentorium cerebelli; 1) CNIII leads to eye moving down and out and a dilated pupil; 2) posterior cerebral artery leads to infarction of occipital lobe (contralateral homonymous hemianopsia); 3) rupture of the paramedian artery leads to Duret (brainstem) hemorrhage

Question 68

Uncal herniation can cause rupture of the paramedian artery leading to ___ (brainstem) hemorrhage

Answer 68

Duret

Question 69

Myelin insulates ___, improving the __ and __ of conduction. ___ myelinate the CNS, and ___ myelinate the PNS

Answer 69

axons; speed; efficiency; oligodendrocytes; Schwann cells

Question 70

Demyelinating disorders are characterized by destruction of __ or ___. ___ are generally preserved

Answer 70

myelin; oligodendrocytes; axons

Question 71

_____ are inherited mutations in enzymes necessary for production or maintenance of myelin

Answer 71

Leukodystrophies

myelin is white - which is why white matter is white

Question 72

Metachromatic leukodystrophy is due to a deficiency of ____. Name the pattern of inheritance. ___ cannot be degraded and accumulate in the lysosomes of oligodendrocytes

Answer 72

arylsulfatase; autosomal recessive; sulfatides

lysosomal storage disease

Question 73

Krabbe disease is due to a deficiency of ___. Name the pattern of inheritance. ____ accumulates in macrophages.

Answer 73

galactocerebrosidase; autosomal recessive; galactoberebroside; (build-up of unmetabolized lipids affects the growth of the nerve’s protective myelin sheath)

Question 74

Name 3 leukodystrophies and their patterns of inheritance

Answer 74

Krabbe disease, metachromatic leukodystrophy, adrenoleukodystrophy
(first two are AR, and last one is x-linked

Question 75

Adrenoleukodystrophy is due to impaired addition of ___ to long-chain fatty acids. Name the pattern of inheritance. Accumulation of ____ damages __ and __.

Answer 75

coenzyme A; x-linked; fatty acids; adrenal glands; white matter of the brain

Question 76

Multiple sclerosis is ___ destruction of CNS __ and ___. It is more commonly seen in women/men. It is associated with HLA-__ and is more commonly seen in regions close to/away from the equator.

Answer 76

autoimmune; myelin; oligodendrocytes; women; DR2; away from

Question 77

What is the most common leukodystrophy

Answer 77

Metachromatic leukodystrophy

Question 78

What is the most common chronic CNS disease of young adults (20-30 yrs)?

Answer 78

Multiple sclerosis

Question 79

MS presents with ___ neurologic deficits with periods of ___ (multiple lesions in time and space).

Answer 79

relapsing; remission

Question 80

Name 6 clinical features of multiple sclerosis

Answer 80

1) blurred vision in one eye (optic nerve); 2) vertigo and scanning speech mimicking EtOH intox (brainstem); 3) internuclear ophthalmoplegia (MLF); 4) hemiparesis or unilateral loss of sensation (cerebral white matter, usually periventricular); 5) lower extremity loss of sensation or weakness (spinal cord); 6) bowel, bladder, and sexual dysfunction (ANS)

Question 81

For the following clinical feature of MS, name the location of the lesion: 1) blurred vision in one eye; 2) vertigo/scanning speech; 3) internuclear ophthalmoplegia; 4) hemiparesis; 5) lower extremity weakness/loss of sensation; 6) bowel, bladder, and sexual dysfunction

Answer 81

1) optic nerve; 2) brainstem; 3) medial longitudinal fasciculus; 4) cerebral white matter, usually periventricular; 5) spinal cord; 6) autonomic nervous system

Question 82

MS diagnosis is made by __ and ___. Gross examination shows ___ in the white matter. Treatment of acute attacks includes ___. Long term tx with ___ slows progression of disease

Answer 82

MRI; lumbar puncture; gray-appearing plaques; high-dose steroids; interferon beta

Question 83

An MRI of an MS brain reveals ___ (areas of white matter demyelination). LP shows an increase in these 3 things.

Answer 83

lymphocytes; immunoglobulins with oligoclonal IgG bands on high resolution electrophoresis; myelin basic protein (since myelin is getting destroyed)

Question 84

In which disease do you see oligoclonal bands on high resolution electrophoresis of CSF?

Answer 84

MS

Question 85

Subacute sclerosing panencephalitis is a progressive, debilitating encephalitis leading to ___. It is due to a rapidly/slowly progressing, persistent brain infxn by ___.

Answer 85

death; measles virus

Question 86

In subacute sclerosing panencephalitis, ___ infxn occurs in infancy, and neurologic signs arise days/weeks/months/years later (during ___). Characterized by ___ within neurons (gray matter) and ___ (white matter).

Answer 86

measles virus; years; childhood; viral inclusions; oligodendrocytes

Question 87

Progressive multifocal leukoencephalopathy is due to ___ infection of ___ (white/gray matter). ___ leads to reactivation of the latent virus. Presents with rapidly/slowly progressive neurologic signs (visual loss, weakness, dementia) leading to ___.

Answer 87

JC virus; oligodendrocytes; immunosuppression; rapidly; death

Question 88

Which demyelinating disorder is due to measles and JC virus? Which one is rapidly progressive vs slowly

Answer 88

Subacute sclerosing panencephalitis: measles and slow progression

Progressive multifocal leukoencephalopathy: JC virus and rapid progression

Question 89

Central pontine myelinolysis is focal demyelination of the ___. It is due to ____. It occurs in severely malnourished pts (e.g. ___ with liver disease).

Answer 89

pons; rapid IV correction of hyponatremia; alcoholics

Question 90

Which demyelinating disorder classically presents as acute bilateral paralysis (aka ___ syndrome)?

Answer 90

central pontine myelinosis; locked in

Question 91

Dementia and degenerative disorders are characterized by loss of ___ within the ___ matter. It is often due to accumulation of __ which damages __.

Answer 91

neurons; gray matter; proteins; neurons

Question 92

Degeneration of ___ leads to dementia and degeneration of ___ and ___ leads to movement disorders

Answer 92

cortex; brainstem; basal ganglia

Question 93

Alzheimer’s disease is a degenerative disease of ___. Diagnosis is made by ___ and ___ correlation. Presumptive diagnosis is made __ after excluding other causes. Confirmed by ___ at autopsy.

Answer 93

cortex; clinical; pathological; clinically; histology

Question 94

What is the most common cause of dementia?

Answer 94

Alzheimer’s disease

Question 95

Name 5 clinical features of Alzheimer’s disease and common cause of death

Answer 95

1) slow consent memory loss (begins w/short term, progresses to long term) and progressive disorientation; 2) loss of learned motor skills and language; 3) changes in behavior and personality; 4) pts become mute and bedridden (infxn is common cause of death); 5) focal near deficits are NOT seen in early disease

Question 96

Most cases (95%) of alzheimer’s disease are sporadic/early onset and seen in ____. Risk increases with ___ (doubles every 5 years after age of ___). ___ allele of apolipoprotein E is associated with increased risk, and __ is associated decreased risk.

Answer 96

sporadic; elderly; age; 60; E4; E2

Question 97

Early-onset AD is seen in these 2 cases

Answer 97

familial cases - associated with presenilin 1 and presenilin 2 mutations; down syndrome (occurs by 40 yrs of age - since amyloid precursor protein is on chromosome 21)

Question 98

Name 4 morphological features of alzheimer’s disease

Answer 98

1) cerebral atrophy with narrowing of gyri, widening of sulci, and dilation of ventricles; 2) neuritic plaques; 3) neurofibrillary tangles; 4) loss of cholinergic neurons in the nucleus baseless of Meynert

Question 99

Neuritic plaques, seen in AD, are an extracellular/intracellular core comprised of ___ with entangled neuritic processes. Amyloid from the plaques may also deposit around ___, increasing the risk of hemorrhage (cerebral amyloid ____)

Answer 99

extracellular; AB amyloid; vessels; angiopathy

Question 100

AB amyloid is derived from ____, which is coded on chromosome __. It normally undergoes ___ cleavage, but when it undergoes __ cleavage it results in AB amyloid, which deposit in cortex and cause ___.

Answer 100

amyloid precursor protein (AAP); 21; alpha; beta; Alzheimer’s disease

Question 101

Neurofibrillary tangles, seen in AD, are extracellular/intracellular aggregates of fibers composed of ____ tau protein. Tau is a ___-associated protein.

Answer 101

intracellular; hyperphosphorylated; microtubule

Question 102

In AD, there can be loss of cholinergic neurons in the ____, which leads to a decrease in mental capacity and learning

Answer 102

nucleus basalis of Meynert

Question 103

What is the 2nd most common cause of dementia?

Answer 103

Vascular dementia

Question 104

Vascular dementia is a focal/multifocal infarction and injury due to these three things.

Answer 104

multifocal; hypertension, atherosclerosis, vasculitis

can be alleviated if you fix the vascular problem - consequence of moderate global ischemia

Question 105

Pick disease is a degenerative disease of the __ and __ cortex, that spares the __ and __ lobes. Characterized by __ aggregates of __ protein (aka __) in neurons of the cortex. __ and __ symptoms arise early; and it eventually progresses to dementia

Answer 105

frontal; temporal; parietal; occipital; round; tau; Pick bodies; behavioral (b/c of frontal cortex); language (b/c of temporal cortex)

Question 106

Parkinson disease is a degenerative loss of ___ neurons in the ___ of the basal ganglia. It is a common disorder related to ___, seen in __% of older adults. The etiology is ___. Historically rare cases were related to ___ exposure (a contaminant in illicit drugs)

Answer 106

dopaminergic; substantia nigra; aging; 2; unknown; MPTP

Question 107

Normally, the ___ pathway of the basal ganglia uses ___ to initiate movement.

Answer 107

nigrostriatal; dopamine

Question 108

Name 4 clinical features of Parkinson disease

Answer 108

TRAP - 1) Tremor (pill rolling tremor at rest that disapears with mvmt); 2) Rigidity (cogwheel rigidity in the extremities); 3) Akinesia/bradykinesia (slowing of voluntary mvmt; expressionless face); 4) Postural instability and shuffling gait

Question 109

Describe the tremor seen in Parkinson disease. What is a common feature of late disease?

Answer 109

It is a pill rolling tremor at rest, that disappears with movement; dementia

Question 110

Histology of a parkinson brain reveals these 2 things.

Answer 110

1) loss of pigmented neurons in the substantia nigra; 2) Lewy bodies (round eosinophilic inclusions of alpha-synuclein)

Question 111

Early onset dementia in Parkinson is actually suggestive of ___ dementia, which is characterized by dementia, ___ and ___ features. Histology reveals cortical ___.

Answer 111

Lew body; hallucinations; parkinsonian; Lewy bodies

Question 112

Huntington disease is degeneration of ___ neurons in the ___ of the basal ganglia. Describe pattern of inheritance. It presents with ___ that can progress to __ and __.

Answer 112

GABAergic; caudate (leads to loss of inhibition of cortex causing chorea); autosomal dominant; chorea (and athetosis, which is snake like slow involuntary mvmts of the fingers); dementia; depression

Question 113

The huntingtin gene is located on chromosome __ and is characterized by trinucleotide repeats (__). Further expansion of repeats during ___ leads to ___ (subsequent generations will get it earlier than previous ones)

Answer 113

4; CAG; spermatogenesis; anticipation

Question 114

The average age of presentation of Huntington disease is ___. ___ is common cause of death.

Answer 114

40; suicide

Question 115

Normal pressure hydrocephalus results in increased ___ resulting in dilated ___. It can cause ___ in adults, and the etiology is usually ___.

Answer 115

CSF; ventricles; dementia; idiopathic

Question 116

Normal pressure hydrocephalus presents with this triad. LP improves/worsens symptoms. Treatment is ____.

Answer 116

urinary incontinence, gait instability, and dementia (wet, wobbly, and wacky); improves; ventriculoperitoneal shunting

Question 117

Spongiform encephalopathy is a degenerative disease due to ___. Disease arises when ___, which is normally expressed in the CNS neurons in a ___ configuration (__), is converted to a ___ conformation (__). This conversion can be ___, ___, or ___.

Answer 117

prion protein; prion protein; alpha helical; PrPC; beta-pleated; PrPSC; sporadic; inherited; transmitted

Question 118

In spongiform encephalopathy, the pathologic protein is not ___ and it converts normal protein into the pathologic form, resulting in a ___. It causes damage to ___ and ___ and is characterized by ____.

Answer 118

degradable; vicious cycle; neurons; glial cells; intracellular vacuoles (spongy degeneration)

Question 119

What is the most common form of spongiform encephalopathy? And how does it arise?

Answer 119

Creutzfeld-Jakob disease (CJD); usually sporadic; rarely can arise due to exposure to prion-infected human tissue (human GH or corneal transplant)

Question 120

CJD presents as rapidly progressive ___ associated with __ and ___. Periodic ___ are seen on EEG. Results in death, usually less than 1 wk/month/year.

Answer 120

dementia; ataxia (cerebellar involvement); startle myoclonus (involuntary contraction of muscle w/minimal stimulus); sharp waves; year

Question 121

Variant CJD (vCJD) is a special form of disease that is related to exposure to ____ (“___”).

Answer 121

bovine spongiform encephalopathy; mad cow

Question 122

Familial fatal insomnia is an inherited form of ___ characterized by severe ___ and an exaggerated ___.

Answer 122

prion disease; insomnia; startle response

Question 123

CNS tumors can be ___ or ___ (50% of each type). Metastatic tumors characteristically present as multiple/single, well/poorly circumscribed lesions at the _____. These 4 types are the most common sources.

Answer 123

metastatic; primary; multiple; well circumscribed; gray-white junctions (most highly vascularized); lung, breast, kidney and melanoma

Question 124

Primary CNS tumors are classified according to ___ of origin. Name 5 types they can arise from. Primary malignant CNS tumors are locally ___, and often/sometimes/rarely metastasize

Answer 124

cell type; astrocytes, oligodendrocytes, ependymal cells, neurons/neuroectoderm, meningothelial cells; destructive; rarely

Question 125

In adults, primary CNS tumors are usually located ____. Name the 3 most common adult CNS tumors. In children, primary CNS tumors are usually located ____. Name the 3 most common child CNS tumors

Answer 125

supratentorial; glioblastoma multiforme, meningioma, schwannoma

infratentorial; pilocytic astrocytoma, ependymoma, medulloblastoma

Question 126

Glioblastoma multiforme (GBM) is a malignant/benign, high/low grade tumor of ____. It usually arises in the ____, and characteristically crosses the ___ (“__ lesion”). It has a good/poor prognosis

Answer 126

malignant; high; astrocytes; cerebral hemisphere; corpus callosum; butterfly; poor

Question 127

GBM is characterized histologically by regions of ___ surrounded by ___ (___ is the term used to describe it) and ____ proliferation. Tumor cells are ___ positive.

Answer 127

necrosis; tumor cells; pseudopalisading; endothelial cell; GFAP (which is an intermediate filament found in glial cells)

Question 128

What is the most common primary malignant CNS tumor in adults? What is the most common CNS tumor in children? What is the most common benign CNS tumor in adults? Which CNS tumor expresses estrogen receptor?

Answer 128

GBM; pilocytic astrocytoma; meningioma; meningioma

Question 129

____ is a benign tumor of arachnoid cells. It is more commonly seen in women/men. It is common/rare in children. May present as ___. Tumor ___, but does not ___ the cortex. Imaging reveals a ___ attached to the dura. Histology shows a ___. ____ may be present.

Answer 129

Meningioma; women (tumor expresses estrogen receptors); seizures; compresses; invade; round mass; whorled pattern; psammoma bodies (calcified whorled cells)

Question 130

Schwannoma is a malignant/benign tumor of Schwann cells. It involves ___ or ___ nerves. Within the cranium, most frequently involves ____ at the _____ angle (which presents as a loss of ___ and ___). Tumor cells are ___ positive. Bilateral tumors are seen in ____.

Answer 130

benign; cranial; spinal; cranial nerve 8; cerebellopontine; hearing; tinnitus; S-100; neurofibromatosis type 2

Question 131

Oligodendroglioma is a malignant/benign tumor of oligodendrocytes. Imaging reveals a ___ tumor in the ___, usually involving the ___ lobe. May present with ____. ____ appearance of cells on biopsy.

Answer 131

malignant; calcified; white matter (makes sense since oligodendrocytes make the white matter); frontal; seizures; fried-egg

Question 132

Pilocytic astrocytoma is a malignant/benign tumor of ___. It is the most common CNS tumor in adults/children. Usually arises in the ____. Imaging reveals a ___ lesion with a ____. Biopsy shows ____ and eosinophilic granular bodies. Tumor cells are ____ positive.

Answer 132

benign; astrocytes; children; cerebellum (below the tentorium since its a childhood cancer); cystic; mural nodule; Rosenthal fibers (thick eosinophilic processes of astrocytes); GFAP

Question 133

Medulloblastoma is a malignant/benign tumor derived from the ___ cells of the ___ (neuroectoderm). Usually arises in adults/children. Histology reveals small ____ cells, and ___ may be present. It has a good/poor prognosis.

Answer 133

malignant; granular; cerebellum; children; round blue; Homer-Wright rosettes; poor

Question 134

Medulloblastoma grows rapidly/slowly and spreads via ___. Metastasis to the cauda equina is termed ‘___’

Answer 134

rapidly; CSF; drop metastasis

Question 135

Ependymoma is a malignant/benign tumor of ependymal cells, usually seen in adults/children. Most commonly arises in the ____, and may present with ___. ____ are a characteristic finding on biopsy.

Answer 135

malignant; children; 4th ventricle; hydrocephalus (grows out in to the ventricle causing hydrocephalus); Perivascular pseudorosettes (looks like brain made a ventricle with a lumen)

Question 136

Craniopharyngioma is a malignant/benign tumor that arises from ___ remnants of ____. Presents as a supra/infra tentorial mass in a ___ or ____. It may compress the ___ leading to ____. ____ are commonly seen on imaging (since derived from tooth like tissue).

Answer 136

benign; epithelial; Rathke’s pouch (upward protrusion from floor of mouth that form anterior pituitary); supra (exception to child rule); child; young adult; optic chiasm; bilateral hemianopsia (think pituitary adenoma, unless a child); calcifications (tends to recur after resection)

Question 137

Name 4 malignant primary CNS tumors. Name 4 benign primary CNS tumors

Answer 137

GBM, oligodendroglioma, medulloblastoma, ependymoma

Meningioma, schwannoma, pilocytic astrocytoma, craniopharyngioma