Neuropathology Flashcards
(354 cards)
1
Q
Brain lesion that causes disinhibition, deficits in concentration, orientation and judgement
A
Frontal lobe
2
Q
Brain lesion that causes reemergence of primitive reflexes
A
Frontal lobe
3
Q
Brain lesion that causes eyes to look toward side of lesion (ipsilateral)
A
Frontal eye fields
4
Q
Brain lesion that causes eyes to look away from lesion
A
Paramedian pontine reticular formation
5
Q
Brain lesion that causes impaired adduction of ipsilateral eye with nystagmus of contralateral eye with abduction
A
Medial longitudinal fasciculus
6
Q
Internuclear ophthalmoplegia
A
Impaired adduction of ipsilateral eye with nystagmus of contralateral eye with abduction
7
Q
Demyelinating disease that causes internuclear ophthalmoplegia
A
Multiple sclerosis
8
Q
Brain lesion that causes agraphia, acalculia, finger agnosia, left-right disorientation
A
Dominant parietal cortex
9
Q
Neuropsychological disorder characterized by dyscalculia, dysgraphia, finger agnosia and left-right disorientation
A
Gerstmann syndrome
10
Q
Brain lesion that causes agnosia of the contralateral side of the world
A
Non-dominant parietal cortex
11
Q
Syndrome characterized by agnosia of the contralateral side of the world
A
Hemispatial neglect syndrome
12
Q
Inability to make new memories
A
Anterograde amnesia
13
Q
Brain lesion that causes anterograde amnesia
A
Hippocampus (bilateral)
14
Q
Brain lesion that causes tremor at rest, chorea, athetosis
A
Basal ganglia
15
Q
Neurodegenerative conditions that cause resting tremors, chorea, and athetosis
A
Huntington and Parkinson disease
16
Q
Brain lesion that causes contralateral hemiballismus
A
Subthalamic nucleus
17
Q
Brain lesion that causes confusion, ataxia, ophthalmoplegia, nystagmus memory loss, confabulation and personality changes
A
Mammillary bodies (bilateral)
18
Q
Neurological disorder characterized by confusion, ataxia, ophthalmoplegia, nystagmus memory loss, confabulation and personality changes
A
Wernicke-Korsakoff syndrome
19
Q
Syndrome characterized by hyperphagia, hypersexuality, hyperorality
A
Kluver-Bucy syndrome
20
Q
Brain lesion that causes Kluver-Bucy syndrome of disinhibited behavior
A
Amygdala (bilateral)
21
Q
Syndrome characterized by paralysis of conjugate vertical gaze
A
Parinaud syndrome
22
Q
Brain lesion that causes paralysis of conjugate vertical gaze
A
Superior colliculus
23
Q
Viral infection that causes of Kluver-Bucy syndrome
A
HSV-1 encephalitis
24
Q
Complications that cause Parinaud syndrome
A
Stroke, hydrocephalus, and pinealoma
25
Brain lesion that causes reduced levels of arousal and wakefulness
Reticular activating system (midbrain)
26
Brain lesion that causes intention tremor, limb ataxia, loss of balance toward side of lesion
Cerebellar hemispheres
27
Brain lesion that causes truncal ataxia and dysarthria
Cerebellar vermis
28
Degeneration of vermis is associated with what
Chronic alcohol use
29
After how many minutes does hypoxia begin to cause irreversible brain damage
5 minutes
30
Areas of brain most vulnerable to hypoxia
Hippocampus, neocortex, cerebellum, watershed areas
31
Which area of the brain is most vulnerable to ischemic hypoxia
Hippocampus
32
Best imaging modality to use to detect ischemia within 3-30 minutes
Diffusion-weighted MRI
33
Best imaging modality to use to detect ischemic changes within 6-24 hours
CT
34
Imaging modality used to exclude hemorrhage
Noncontrast CT
35
What needs to be done before tPA can be given in stroke patient
Exclude hemorrhage with noncontrast CT
36
Ischemic changes seen within 12-24 hours
Red neurons
37
Eosinophilic neuron with pyknotic nuclei
Red neuron
38
Ischemic changes seen after 24-72 hours
Necrosis plus neutrophils
39
Ischemic changes seen after 3-5 days
Macrophages (microglia)
40
Ischemic changes seen after 1-2 weeks
Reactive gliosis plus vascular proliferation
41
Ischemic changes seen after 2 weeks or more
Glial scar (cystic lesion with gliosis)
42
Type of necrosis seen after ischemic attack
Liquefactive necrosis
43
Types of ischemic strokes
Thrombotic, Embolic, Hypoxic
44
Type of stroke common in cardiovascular surgeries affecting watershed areas due to hypoperfusion or hypoxemia
Hypoxic stroke
45
Type of stroke due to a clot forming at site of infarction commonly affecting MCA or basilar and carotid bifurcation
Thrombotic stroke
46
Type of stroke affecting multiple vascular territories caused by a-fib, DVT with patent foramen ovale
Embolic stroke
47
Ischemic stroke treatment
tPA if within 3.5 hours and no risk of hemorrhage
48
Brief reversible episode of focal neurologic dysfunction without acute infarction resolving within 15 minutes
Transient ischemic attack
49
Common locations of hemorrhagic strokes
Thalamus, basal nuclei, pons, cerebellum
50
Clopidogrel MOA
ADP receptor inhibitor
51
Common blood vessel injured in epidural hematoma
Middle meningeal artery (foramen spinosum)
52
Area of skull damaged in epidural hematoma
Pterion (thinnest area of lateral skull)
53
Skull bones that meet at pterion
Frontal, parietal, temporal, sphenoid bones
54
CT findings in epidural hematoma
Biconvex (lentiform) hyperdense blood collection not crossing suture lines
55
Common finding prior to symptoms in epidural hematoma
Lucid interval
56
Common cause of subdural hematoma
Rupture of bridging veins
57
Predisposing factors for subdural hematoma
Brain atrophy, trauma, older age, alcoholism
58
Common cause of subdural hematoma in infants
Shaken baby syndrome
59
CT findings in subdural hematoma
Crescent-shaped hemorrhage that crosses suture lines
60
Type of herniation seen in epidural hematoma
Transtentorial herniation causing CN III palsy
61
Type of herniation seen in subdural hematoma
Midline shifting of ventricles
62
Common cause of subarachnoid hemorrhage
Bleeding from trauma or rupture of aneurysms
63
Types of aneurysms that commonly rupture in subarachnoid hemorrhage
Saccular or Berry aneurysms
64
Symptoms of subarachnoid hemorrhage
"Worst headache of my life", bloody or yellow spinal tap
65
Complication of subarachnoid hemorrhage
Blood breakdown or rebleed cause vasospasms resulting in ischemic infarct
66
Treatment in subarachnoid hemorrhage to reduce or prevent vasospasms
Nimodipine
67
What genetic diseases are associated with saccular and Berry aneurysms
Marfan syndrome and ADPKD
68
What risk is increased in subarachnoid hemorrhages
Risk of developing communicating and/or obstructive hydrocephalus
69
Brain hemorrhage most commonly caused by systemic HTN
Intraparenchymal hemorrhage
70
Conditions associated with intraparenchymal hemorrhage
Amyloid angiopathy, vasculitis, neoplasms
71
Intraparenchymal hemorrhage may be secondary to what type of injury
Ischemic stroke
72
Common location of intraparenchymal hemorrhage
Basal ganglia and internal capsule
73
Condition that develops in perforating vessels as a result of HTN
Charcot-Bouchard microaneurysm of lenticulostriate vessels
74
Presentation of intraparenchymal hemorrhage
Presents with headache, nausea, vomiting, and eventually coma
75
Effects of MCA stroke to temporal lobe (Wernicke); frontal lobe (Broca)
Aphasia if dominant (left hemisphere)
| Hemineglect if non-dominant (right hemisphere)
76
Effects of MCA stroke to frontal lobe
Broca's aphasia
77
Effects of MCA stroke to motor and sensory cortices
Contralateral paralysis and sensory loss (face and upper limb)
78
Area of brain associated with Wernicke aphasia
Right superior quadrant
79
Area of brain involved in MCA stroke causing visual field deficits
Temporal lobe
80
Effects of Anterior cerebral stroke to motor and sensory cortices
Contralateral paralysis and sensory loss (lower limb)
81
Effects of Lenticulostriate artery stroke to striatum, internal capsule
Contralateral paralysis and/or sensory loss (face and body)
| Absence of cortical signs (neglect, aphasia, visual loss)
82
Common cause of lacunar infarcts
Hyaline arteriosclerosis due to unmanaged hypertension
83
Effects of Anterior spinal artery stroke to Lateral corticospinal tract
Contralateral paralysis (upper and lower limbs)
84
Effects of Anterior spinal artery stroke to Medial lemniscus
Decreased contralateral proprioception
85
Effects of Anterior spinal artery stroke to Caudal medulla-hypoglossal nerve
Ipsilateral hypoglossal dysfunction (tongue deviates ipsilaterally)
86
Ipsilateral deviation of tongue, contralateral limb weakness, contralateral sensory loss
Medial medullary syndrome
87
Effects of Posterior inferior cerebellar artery stroke to lateral medulla affecting nucleus ambiguus
Dysphagia, hoarseness, decreased gag reflex
88
Effects of Posterior inferior cerebellar artery stroke to lateral medulla affecting Vestibular nuclei
Vomiting, vertigo, nystagmus
89
Effects of Posterior inferior cerebellar artery stroke to lateral medulla affecting lateral spinothalamic tract, spinal trigeminal nucleus
Decreased pain and temperature from contralateral body, ipsilateral face
90
Effects of Posterior inferior cerebellar artery stroke to lateral medulla affecting Sympathetic fibers
Ipsilateral Horner syndrome
91
Effects of Posterior inferior cerebellar artery stroke to lateral medulla affecting Inferior cerebellar peduncle
Ataxia, dysmetria
92
Artery specific to Nucleus ambiguus effects
PICA
93
Artery supplying Inferior cerebellar peduncle
PICA
94
Syndrome characterized by Ataxia, dysmetria; Ipsilateral Horner syndrome; Decreased pain and temperature on contralateral body and ipsilateral face; Vomiting, vertigo, nystagmus; Dysphagia, hoarseness, decreased gag reflex
Lateral Medullary syndrome
95
Effects of Anterior inferior cerebellar artery stroke to lateral pons affecting Facial nucleus
Face paralysis, decreased lacrimation, salivation, and taste from anterior 2/3 of tongue
96
Effects of Anterior inferior cerebellar artery stroke to lateral pons affecting Vestibular nuclei
Vomiting, vertigo, nystagmus
97
Effects of Anterior inferior cerebellar artery stroke to lateral pons affecting Spinothalamic tract, spinal trigeminal nucleus
Decreased pain and temperature from contralateral body and ipsilateral face
98
Effects of Anterior inferior cerebellar artery stroke to lateral pons affecting Sympathetic fibers
Ipsilateral Horner syndrome
99
Effects of Anterior inferior cerebellar artery stroke to lateral pons affecting Middle and Inferior cerebellar peduncles
Ataxia, dysmetria
100
Syndrome characterized by Face paralysis, decreased lacrimation, salivation, and taste from anterior 2/3 of tongue; Vomiting, vertigo, nystagmus; Decreased pain and temperature from contralateral body and ipsilateral face; Ataxia, dysmetria
Lateral pontine syndrome
101
Facial nucleus affects are specific to a lesion of what artery
AICA
102
Effects of Basilar artery stroke to Pons, medulla, lower midbrain
Completely paralyzed but RAS spared, therefore preserved consciousness
103
Condition in which patient is fully aware and can only move their eyes
Locked-in syndrome
104
Effects of Basilar artery stroke to Corticospinal and corticobulbar tracts
Quadriplegia with loss of voluntary facial, mouth and tongue movements
105
Effects of Basilar artery stroke to Ocular cranial nerve nuclei and PPRF
Loss of horizontal, but not vertical eye movements
106
Effects of Posterior cerebellar artery stroke to Occipital lobe
Contralateral hemianopia with macular sparing
107
Initial paresthesias followed in weeks to months by allodynia and dysesthesia due to thalamic lesions in 10% of stroke patients
Central post-stroke pain syndrome
108
Lesion to inferior frontal gyrus of frontal lobe in which patient has non-fluent speech but intact comprehension
Broca's aphasia
109
Lesion to arcuate fasciculus with intact comprehension and fluent paraphrasic speech
Conduction aphasia
110
Lesion to arcuate fasciculus affecting Broca and Wernicke areas with impaired comprehension and non-fluent speech
Global aphasia
111
Lesion to superior temporal gyrus of temporal lobe with impaired comprehension and non-sensical fluent speech
Wernicke's aphasia
112
Lesion affecting frontal lobe with sparing of Broca's area with intact comprehension and non-fluent speech
Transcortical motor aphasia
113
Lesion affecting watershed areas with sparing of Broca's, Wernicke's and arcuate fasciculus with impaired comprehension and non-fluent speech
Transcortical, mixed aphasia
114
Lesion affecting temporal lobe with sparing of Wernicke's area with impaired comprehension and fluent speech
Transcortical sensory aphasia
115
Most common site of Berry aneurysms
Junction of anterior communicating artery and ACA
116
Diseases associated with berry aneurysms
ADPKD and Ehlers-Danlos syndrome
117
Risk factors for berry aneurysms
older age, HTN, smoking, race
118
Race at increased risk of berry aneurysms
African-Americans
119
Symptoms of Anterior communicating artery compression aneurysm
Bitemporal hemianopia (optic chiasma compression)
120
Symptom of posterior communicating artery compression
Ipsilateral CN III palsy (mydriasis, ptosis, "down and out" eye
121
Disorder of recurrent seizures
Epilepsy
122
Continuous or recurring seizures that may result in brain injury lasting 5-30 minutes
Status epilepticus
123
Seizure with impaired consciousness
Complex partial seizure
124
Seizure with motor, sensory, autonomic, psychic auras with preserved consciousness
Simple partial seizure
125
Seizures affecting single area of brain, often preceded by auras
Partial seizures
126
Lobe commonly involved with partial seizures
Medial temporal lobe
127
Seizure characterized by blank stare and no postictal confusion
Absence seizure
128
Seizure characterized by quick, repetitive jerks
Myoclonic seizure
129
Seizure characterized by alternating stiffening and movement
Tonic-clonic seizure
130
Seizure characterized by 3 Hz spike-and-wave discharges
Absence seizure
131
Seizure characterized by stiffening
Tonic seizure
132
Seizure characterized by "drop" to floor and commonly mistaken for fainting
Atonic seizure
133
Common causes of seizures in children
Genetic, febrile seizures, trauma, congenital metabolic
134
Common causes of seizures in adults
Tumor, trauma, stroke, infection
135
Common causes of seizures in elderly
Stroke, tumor, trauma, metabolic, infectioin
136
Repetitive, brief, unilateral headaches with severe periorbital pain with lacrimation and rhinorrhea
Cluster headache
137
Treatment for acute cluster headaches
Sumatriptan, 100% O2
138
Prophylactic treatment for cluster headaches
Verapamil (CCB)
139
Unilateral headache that last 15 min to 3 hours, is repetitive and may present with Horner syndrome
Cluster headache
140
Unilateral headache with pulsating pain, nausea, photophobia and phonophobia; possible aura lasting 4 to 72 hours
Migraine headache
141
Cause of migraine
Irritation of CN V, meninges or blood vessels
142
Substances released from blood vessels causing migraine
Substance P, calcitonin gene-related peptide and vasoactive particles
143
Acute treatment for migraine
NSAIDs, triptans, dihydroergotamine
144
Prophylactic treatment for migraines
Lifestyle changes, beta-blockers, CCBs, amitryptaline, topiramate, valproate
145
Bilateral headache with steady pain and constant lasting 4 to 6 hours
Tension headache
146
Treatment for tension headaches
Analgesics, NSAIDs, acetaminophen; (amitriptyline for chronic pain)
147
Repetitive, unilateral, shooting pain in the distribution of CN V lasting less than 1 minute
Trigeminal neuralgia
148
Treatment for trigeminal neuralgia
Carbamazepine
149
Restlessness and intense urge to move; cannot sit still
Akathisia
150
Common causes of akathisia
Neuroleptics use or Parkinson disease
151
Extension of wrists causes flapping motion
Asterixis
152
Basal ganglia lesion causing slow, snake-like, writhing movements, especially in fingers
Athetosis
153
Basal ganglia lesion causing sudden jerky, purposeless movements
Chorea
154
Type of chorea seen in acute rheumatic fever and Huntington disease
Sydenham chorea
155
Sustained, involuntary muscle contractions like torticollis, writer's cramp or blepharospasm
Dystonia
156
High-frequency tremor with sustained posture worsened with movement or when anxious
Essential tremor
157
Patients with essential tremors often self-medicate with which substance
Alcohol
158
Treatment for essential tremors
Primidone or non-selective beta-blockers like propranolol
159
Contralateral subthalamic lesion causing sudden, wild flailing of 1 arm; maybe ipsilateral leg
Hemiballismus
160
Cerebellar dysfunction causing slow, zigzag motion when pointing/extending toward a target
Intention tremor
161
Sudden, brief, uncontrolled muscle contraction
Myoclonus
162
Substantia nigra lesion causing uncontrolled movement of distal appendages alleviated by intentional movement
Resting tremor
163
Disease causing intention tremor characterized by "pill-rolling tremor" at rest
Parkinson disease
164
Signs and symptoms of Parkinson disease
Tremor at rest, Rigidity, Akinesia, Postural instability, Shuffling gait (TRAP)
165
Description of Lewy bodies
Made of alpha-synuclein
166
Intracellular eosinophilic inclusions seen in Parkinson disease made of alpha-synuclein
Lewy bodies
167
Cause of movement disorders in Parkinson disease
Loss of dopaminergic neurons of substantia nigra pars compacta
168
Illegal street drug contaminant that can cause Parkinson disease
MPTP
169
Autosomal dominant trinucleotide repeat in Huntington disease
CAG
170
Chromosome affected in Huntington disease
Chromosome 4
171
Brain structure affected in Huntington disease
Atrophy of caudate and putamen with ex vacuo ventriculomegaly
172
Cause of neuronal death in Huntington disease
NMDA-R binding and glutamate excitotoxicity
173
Neurotransmitter changes in Huntington disease
Increased dopamine
| Decreased GABA, ACh
174
Signs and symptoms of Huntington disease
Chorea, Dementia, Athetosis, Depression, Aggression (C DADA)
175
When does anticipation occur
Spermatogenesis
176
Most common cause of dementia in elderly
Alzheimer disease
177
Who is at risk of developing early onset dementia
Down syndrome patients
178
Cause of Alzheimer disease in Down syndrome
Amyloid precursor protein is located on chromosome 21
179
What are neurofibrillary tangles
Hyperphosphorylated tau protein
180
What are senile plaques
Beta-amyloid core
181
Location of neurofibrillary tangles
Intracellular
182
How is A-beta (amyloid-beta) made
Cleavage of amyloid precursor protein (APP)
183
Which Apo protein is associated with decreased risk of sporadic form of Alzheimer's
ApoE2
184
Location of senile plaques
Extracellular space
185
Gross findings in Alzheimer disease
Widespread cortical atrophy, especially hippocampus with narrowing of gyri and widening of sulci
186
Microscopic findings in Alzheimer disease
Intracellular neurofibrillary tangles and extracellular senile plaques
187
How many copies of APP gene are found in Down syndrome
3 copies on chromosome 21
188
Familial form of Alzheimer's is associated with which proteins
Presenelin-1 and presenelin-2
189
Which Apo protein is associated with sporadic form of Alzheimer's
ApoE4
190
Gross findings in frontotemporal dementia
Frontotemporal degeneration
191
Microscopic findings in frontotemporal dementia
Inclusions of hyperphosphorylated tau
192
Appearance of tau protein in frontotemporal dementia
Round Pick bodies
193
Signs and symptoms of frontotemporal dementia
Changes in personality and behavior or aphasia; possible movement disorders
194
Microscopic findings in Lewy body dementia
Intracellular Lewy bodies primarily in cortex
195
Signs and symptoms of Lewy body dementia
Dementia and visual hallucinations, parkinsonian features
196
Cause of vascular dementia
Multiple arterial infarcts and or chronic ischemia
197
Second most common cause of dementia in elderly
Vascular dementia
198
Signs and symptoms of vascular dementia
Step-wise decline in cognitive ability with late-onset memory impairment
199
Cause of vascular dementia
HTN, atherosclerosis or vasculitis
200
Image findings in vascular dementia
Multiple cortical and or subcortical infarcts
201
Rapidly progressive dementia with myoclonus
Creutzfeldt-Jacob disease
202
Common findings in Creutzfeldt-Jacob disease
Periodic sharp waves on ECG and increases 14-3-3 protein in CSF
203
Common gross and microscopic findings in Creutzfeldt-Jacob disease
Spongiform cortex and prions
204
What are prions made of
Beta-pleated sheet resistant to proteases
205
Increased ICP with no apparent cause
Idiopathic ICP
206
Another name of idiopathic ICP
Pseudotumor cerebri
207
Risk factors associated with pseudotumor cerebri
Female gender, obesity, vitamin A excess, tetracycline, danazol
208
Signs and symptoms of pseudotumor cerebri
Headache, diplopia, papilledema with no mental status change
209
Lumbar puncture findings in pseudotumor cerebri
Increased opening pressure with headache relief
210
Treatment for pseudotumor cerebri
Weight loss, acetazolamide, topiramate
211
Treatment for refractory pseudotumor cerebri
Repeat lumbar puncture, CSF shunt placement, or optic nerve sheath fenestration surgery
212
Common findings in communicating hydrocephalus
Increased ICP, papilledema and herniation
213
Common cause of communicating hydrocephalus
Arachnoid scarring post-meningitis
214
Common symptoms in normal pressure hydrocephalus
Urinary incontinence, ataxia, cognitive dysfunction and magnetic gait (feet appear stuck on floor)
215
Who is at risk for normal pressure hydrocephalus
Elderly
216
Image findings in normal pressure hydrocephalus
Expansion of ventricles
217
Common findings in normal pressure hydrocephalus
Episodic elevated CSF pressure and no increased subarachnoid space volume
218
Appearance of increased CSF on imaging but actually due to decreased brain tissue and neuronal atrophy with normal ICP
Ex vacuo ventriculomegaly
219
Acute paralysis, dysarthria, dysphagia, diplopia, loss of consciousness secondary to osmotic changes
Osmotic demyelination syndrome
220
Other name for osmotic demyelination syndrome
Central pontine myelinolysis
221
Complication of osmotic demyelination syndrome
Locked-in syndrome
222
Common cause of osmotic demyelination syndrome
Iatrogenic from overly rapid correction of hyponatremia
223
Result of correcting hypernatremia too quickly
Cerebral edema/herniation
224
Autoimmune inflammation and demyelination of oligodendrocytes in CNS
Multiple sclerosis
225
Most common clinical course of multiple sclerosis
Relapsing and remitting
226
Population commonly affected by multiple sclerosis
Caucasian women in 20s and 30s living farther from equator
227
Symptoms of MS
Scanning speech, Intention tremor, Incontinence, Internuclear ophthalmoplegia, Nystagmus, Hemiparesis, Hemisensory symptoms
228
Charcot triad
Scanning speech, Intention tremor, Nystagmus (SIN)
229
Findings in MS
Increased IgG levels and myelin basic protein in CSF
230
Diagnosis of MS
Oligoclonal bands on MRI, paraventricular plaques with preservation of axon and multiple white matter lesions
231
Paraventricular plaques
Areas of oligodendrocyte loss and reactive gliosis
232
Treatment for MS to slow progression and modify disease
Beta-interferon slows progression, glatiramer and natalizumab
233
Acute flair treatment for MS
IV steroids
234
Symptomatic treatment for neurogenic bladder in MS
Catheterization, muscarinic antagonists
235
Symptomatic treatment for spasticity in MS
Baclofen, GABA receptor antagonist
236
Symptomatic treatment for pain in MS
TCAs, anticonvulsants
237
Autoimmune condition that destroys Schwan cells causing inflammation and demyelination of peripheral nerves and motor fibers
Guillain-Barre syndrome
238
Type of paralysis seen in Guillain-Barre syndrome
Symmetric, ascending paralysis beginning in lower extremities
239
Prognosis of Guillain-Barre syndrome
Almost all patients survive with recovery in weeks to months
240
CSF findings in Guillain-Barre syndrome
Increased CSF protein that may cause papilledema
241
Bacteria associated with Guillain-Barre syndrome
Campylobacter jejuni
242
Treatment for Guillain-Barre syndrome
Respiratory support, plasmapheresis, IV immunoglobulins
243
Multifocal inflammation and demyelination after infection or vaccination with rapidly progressive multifocal neurological symptoms and altered mental status
Acute disseminated encephalomyelitis
244
Disease also known as hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease
245
Typical inheritance pattern of Charcot-Marie-Tooth disease
Autosomal dominant
246
Mechanism of Charcot-Marie-Tooth disease
Defective proteins involved in structure and function of peripheral nerves or myelin sheath
247
Typical findings associated with Charcot-Marie-Tooth disease
Foot deformities (pes cavus, hammer toe), lower extremity weakness and sensory deficits
248
Inheritance pattern for Krabbe disease
Autosomal recessive
249
Defect in Krabbe disease
Galactocerebrosidase deficiency
250
Mechanism of Krabbe disease
Galactocerebroside and psychosine buildup destroy myelin
251
Findings in Krabbe disease
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
252
Inheritance pattern for metachromatic leukodystrophy
Autosomal recessive
253
Defect in metachromatic leukodystrophy
Arylsulfatase A deficiency
254
Mechanism of metachromatic leukodystrophy
Buildup of sulfatides impairs production and destroys myelin
255
Findings in metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and dementia
256
Most common leukodystrophy
Metachromatic leukodystrophy
257
Demyelinating disease of CNS seen in reactivation of latent JC virus infection that is rapidly progressive and usually fatal
Progressive multifocal leukoencephalopathy
258
Drugs that increase risk of progressive multifocal leukoencephalopathy
Natalizumab and rituximab
259
Population affected by progressive multifocal leukoencephalopathy
AIDS patients
260
Inheritance pattern of adrenoleukodystrophy
X-linked
261
Mechanism of adrenoleukodystrophy
Disruption of very-long-chain fatty acid metabolism increases fatty acids damaging adrenal glands, testes and nervous system
262
Complications of adrenoleukodystrophy
Long-term coma and death in adrenal crisis
263
What is the defect in adrenoleukodystrophy
Cannot add coenzyme A to long-chain fatty acids
264
Sturge-Weber syndrome inheritance
Congenital, non-inherited
265
Mechanism of Sturge-Weber syndrome
Mutation in GNAQ gene causes developmental anomaly in neural crest cell derivatives
266
Sturge-Weber syndrome acronym for symptoms
STURGE: Sporadic, Tram track calcifications, Unilateral, Retardation, GNAQ, Glaucoma, Epilepsy
267
Genetic defect of tuberous sclerosis
TSC1/TSC2 mutation on chromosome 16
268
Inheritance pattern of tuberous sclerosis
Autosomal dominant, variable expression
269
Common findings in tuberous sclerosis
```
HAMARTOMAS:
Hamartomas in CNS and skin
Angiofibromas
Mitral regurgitation
Ash-leaf spots
Rhabdomyoma
Tuberous sclerosis
autosomal dOminant
Mental retardation
Angiomyolipoma
Seizures, Shagreen patches
```
270
Inheritance pattern for NF1
Autosomal dominant, 100% penetrance
271
Mutation in NF1
NF1 tumor suppressor gene on chromosome 17
272
Function of NF1
Codes for neurofibromin
273
Function of neurofibromin
Negative regulator of RAS
274
Signs and symptoms in NF1
Café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytoma, Lisch nodules
275
Pigmented iris hamartomas
Lisch nodules
276
Inheritance patter for NF2
Autosomal dominant
277
Mutation in NF2
NF2 tumor suppressor on chromosome 22
278
Signs and symptoms in NF2
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas
279
NF2 affects what
2 ears, 2 eyes, and 2 parts of brain
280
Inheritance pattern for von Hippel-Lindau disease
Autosomal dominant
281
Mutation in von Hippel-Lindau disease
Deletion of VHL gene on chromosome 3
282
Findings in von Hippel-Lindau disease
```
HARP:
Hemangioblastomas - retina, brain stem, spine cerebellum
Angiomatosis - skin, mucosa, organs
Renal cell carcinoma - bilateral
Pheochromocytoma
```
283
Common, highly malignant brain tumor that can cross corpus callosum
Glioblastoma
284
Cell of origin in glioblastoma
Astrocyte
285
Microscopic findings in glioblastoma
GFAP positive, "pseudopalisading" pleomorphic tumor cells around central area of necrosis
286
Mass with "fried egg" cells in frontal lobe white matter and "chicken wire" capillary pattern presenting with seizures
Oligodendroglioma
287
Benign brain tumor with dural attachment, spindle cells in whirled pattern and psammoma bodies presenting with seizures
Meningioma
288
Cerebellar tumor associated with von Hippel-Lindau syndrome with thin-walled capillaries presenting with polycythemia
Hemangioblastoma
289
Cell of origin in meningioma
Arachnoid cell
290
S-100 positive tumor at the cerebellopontine angle localized to CN VIII
Schwannoma
291
Cell of origin in schwannoma
Schwan cells
292
Cell of origin in hemangioblastoma
Blood vessel
293
Most common adult tumor
Meningioma
294
Well circumscribed, GFA positive tumor in posterior fossa with eosinophilic, corkscrew fibers
Astrocytoma
295
Most common malignant brain tumor in childhood
Medulloblastoma
296
Most common benign CNS tumor in childhood
Astrocytoma
297
Cell of origin in astrocytoma
Glial cell
298
Cell of origin in medulloblastoma
Neuroectodermal
299
Brain tumor in cerebellum causing non-communicating hydrocephalus with Homer-Wright rosettes and small blue cells on histology
Medulloblastoma
300
Malignant brain tumor in 4th ventricle causing hydrocephalus with perivascular rosettes and basal ciliary bodies near the nucleus on histology
Ependymoma
301
Most common childhood supratentorial tumor
Craniopharyngioma
302
Cell of origin in ependymoma
Ependymal cells
303
Cell of origin in craniopharyngioma
Remnants of Rathke pouch
304
Brain tumor causing bitemporal hemianopia with calcification and cholesterol crystals in motor oil-like fluid within tumor on histology
Craniopharyngioma
305
Brain tumor causing vertical gaze palsy, obstructive hydrocephalus, increased beta-HCG production in boys
Pinealoma
306
Artery compressed with cingulate herniation under falx cerebri
Anterior cerebral artery
307
Complications of transtentorial herniation
Caudal displacement of brain stem rupturing paramedian basilar artery branches leading to Duret hemorrhages
308
Complications of Uncal herniation to ipsilateral CNIII
Blown pupil - down and outward gaze
309
Complications of Uncal herniation to ipsilateral PCA
Contralateral homonymous hemianopia with macular sparing
310
Complications of Uncal herniation to contralateral crus cerebri
Ipsilateral paresis
311
Complications of cerebellar herniation into the foramen magnum
Coma and death when brain stem compressed
312
UMN sign lesions
Weakness, Up reflexes, tone, & Babinski; spastic paresis, clasp knife spasticity
313
LMN sign lesions
Weakness, atrophy, fasciculations, Down reflexes, tone; flaccid paralysis
314
Congenital degeneration of anterior horns of spinal cord causing "floppy baby"
Werdnig-Hoffmann disease
315
Motor nerves affected in Werdnig-Hoffmann disease
LMN's
316
Symptoms in Werdnig-Hoffmann disease
Symmetric weakness, hypotonia and tongue fasciculations
317
Inheritance pattern of Werdnig-Hoffmann disease
Autosomal recessive
318
Degeneration of anterior horns of spinal cord causing asymmetric weakness
Poliomyelitis
319
Combined UMN and LMN deficits from loss of cortical and spinal cord neurons presenting with asymmetric limb weakness, fasciculations and eventual atrophy
Amyotrophic lateral sclerosis (ALS)
320
Other name for amyotrophic lateral sclerosis
Lou Gehrig disease
321
Enzyme defective in familial ALS
Superoxide dismutase I
322
Treatment for ALS
Riluzole
323
Presentation of complete occlusion of anterior spinal artery
Below lesion: UMN deficits and loss of pain and temp
| Level of lesion: LMN deficits
324
Sensory and Motor tracts affected in complete occlusion of anterior spinal artery
Cortical spinal tract below lesion - UMN deficits
Spinothalamic tract below lesion - pain and temp
Anterior horn at level of lesion - LMN deficits
325
Artery that supplies anterior spinal artery at T8 spinal level
Artery of Adamkiewicz
326
Lesion that caused by tertiary syphilis resulting in demyelination of dorsal columns and roots presenting with absence of DTRs and positive Romberg sign
Tabes dorsalis
327
Patient with Argyll Robertson pupils and poor coordination most likely has what defect of spinal cord
Demyelination of dorsal columns and roots
328
Lesion causing bilateral loss of pain and temp in cape-like distribution and associated with Chiari I malformation
Syringomyelia
329
Area of spinal cord affected by syringomyelia
Anterior white commissure of spinothalamic tract
330
Sensory and motor tracts affected in patient with ataxic gait, paresthesia and impaired position/vibration sense with vitamin B12 deficiency
Spinocerebellar tracts, lateral Corticospinal tracts and Dorsal columns
331
Person with compression of spinal roots from L2 and below is at risk for what complications
Loss of bladder and anal sphincter control, radicular pain, saddle anesthesia
332
Motor nerves affected in cauda equina syndrome
LMNs
333
Cauda equina syndrome
Radicular pain, absent knee and ankle reflex, loss of bladder and anal sphincter control
334
Mechanism of poliomyelitis
Poliovirus replicates in oropharynx and small intestine then spreads to bloodstream and CNS
335
Area of CNS affected by poliomyelitis
Anterior horn of spinal cord causing LMN death
336
Diagnosis of patient presenting with fever, malaise, headache, nausea, LMN signs with increased WBCs and slight protein increase in CSF
Poliomyelitis
337
Symptoms present with damage to oculosympathetic pathway
Miosis, ptosis, anhydrosis
338
Horner syndrome
Miosis, ptosis, anhydrosis
339
Presentation of hemisection of spinal cord
Ipsilateral loss of all sensation at lesion level
Ipsilateral LMN signs at lesion level
Ipsilateral UMN signs below lesion
Ipsilateral loss of fine touch and proprioception below lesion
Contralateral pain and temp loss below lesion
Horner syndrome if lesion above T1
340
Brown-Sequard syndrome
Lesion affecting hemisection of spinal cord
341
Inheritance pattern of Friedreich ataxia
Autosomal recessive
342
Defect in Friedreich ataxia
Trinucleotide GAA repeat on chromosome 9
343
Mechanism of Friedreich ataxia
Defective frataxin gene impairs mitochondria leading to degeneration of spinal cord tracts
344
Cause of death in Friedreich ataxia
Hypertrophic cardiomyopathy
345
Presentation of Friedreich ataxia in childhood
Kyphoscoliosis with staggering gait, falling, diabetes, pes cavus, hammer toes, nystagmus and dysarthria
346
Presentation of CN V motor lesion
Jaw deviates toward side of lesion from unopposed pterygoid muscle on opposite side
347
Presentation of CN X lesion
Uvula deviates away from side of lesion
348
Presentation of CN XI lesion
Contralateral weakness turning head and ipsilateral shoulder droop
349
Presentation of CN XII lesion
Tongue deviates to side of lesion
350
Motor neuron affect with CN XII lesion
LMN
351
Motor neuron lesion causing ipsilateral paralysis of upper and lower muscles of face with taste loss to anterior 2/3 of tongue and hyperacusis
LMN lesion
352
Cause of LMN lesion causing ipsilateral paralysis of upper and lower muscles of face
Destruction of facial nucleus or CN VII anywhere along its path
353
Cause of UMN lesion causing lower facial paralysis
Contralateral destruction of motor cortex or connection between motor cortex and facial nucleus
354
Motor neuron lesion causing contralateral paralysis of lower face muscles with sparing of forehead
UMN lesion
