Term
|
Definition
Chr 1, 14, 21 (BAPP) - auto dom
Chr 19 (ApoE4) - susceptibility
Chr 12, 6, 10 - susceptibility |
|
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Term
Which disease do these describe?
Neuritic plaques
Neurofibrillary tangles
Amyloid angiopathy
Granulovacuolar degeneration
Hirano bodies |
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Definition
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|
Term
| granulovacuolar degeneration and hirano bodies present in _____________ |
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Definition
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Term
|
Definition
|
|
Term
Which disease do these describe?
-similar presentation as AD except involving slighly earlier onset and frontal and temporal lobe signs (behavioral abnormalities, extrapyramidal symptoms)
-some cases due to mutations in tau on Chr 17. |
|
Definition
| Pick's disease (frontotemporal dementia) |
|
|
Term
Which disease do these describe?
-young age of onset (35-45yo)
-personality changes, chorea, dementia
-autosomal dominant chr 4 |
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Definition
|
|
Term
Which disease do these describe?
- severe atrophy of caudate nucleus and globus pallidus and putamen
-essentially flat caudate nucleus and very large ventricles in gross section |
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Definition
|
|
Term
Which disease do these describe?
- mid to late life onset
- male predominance
- degeneration of corticospinal tract (both UMN, LMN lesions)
- familial cases may be due to superoxide dismutase gene mutation on Chr21 |
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Definition
| Amytrophic lateral sclerosis / Lou Gehrig disease |
|
|
Term
Which disease do these describe?
- vacuolization of neuropil due to loss of UMNs
- Bunina bodies in LMNs in CN nuclei and anterior horn |
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Definition
|
|
Term
Which disease do these describe?
GM2 gangliosidosis
Hexosamindase A defect
Motor and mental deterioration at 6 mths
Amaurotic familial idiocy
Cherry red spot
Multilaminated profile of abnormal lipid storage product |
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Definition
|
|
Term
Which disease do these describe?
-sphingomyelinase deficiency
-Types A, B, C
-oligolamellar profile of abnormal lipid storage product (instead of multilaminated profile) |
|
Definition
Niemann-Pick disease
Type A: infantile
Type B: juvenile, no CNS involvement
Type C: juvenile, CNS involvement, may present in adulthood
(multilaminated: tay sachs) |
|
|
Term
Which disease do these describe?
Glucosylceramide lipidosis (Glucocerebroside B-glucosidase) |
|
Definition
|
|
Term
Galactosylceramide lipidosis (Galactocerebroside B-galactosidase)
onset 6 mths
rigidity, diminished alertness, blindness, deafness
fatal within a year
White matter tracts affected
*** Giant cells engulfing lipid, attempting to recirculate it into circulation |
|
Definition
|
|
Term
Which disease do these describe?
Arylsufatase A deficiency
onset 1-4yrs
rare adult forms
motor and mental deterioration
peripheral neuropathy
white matter tracts affected
Characteristic inclusions in giant cells seen under EM*** |
|
Definition
| Metachromatic leucodystrophy |
|
|
Term
Which disease do these describe?
hepatolenticular Degeneration
abnormal copper transport
copper in urine
decreased ceruloplasmin (protein tt transports copper)
Marked discoloration of putamen and caudate
Autosomal recessive |
|
Definition
|
|
Term
| Thiamine deficiency caused by alcohol abuse or chemotherapy can cause the following CNS disorders: |
|
Definition
Wernicke encephalopathy - psychotic symptoms and opthalmoplegia
Korsakoff syndrome - memory disturbance and confabulation
Both show hemorrhage and necrosis in mamillary bodies and periventricular regions |
|
|
Term
Irreversible peripheral neuropathy can be caused by this Vit's deficiency
-ataxia numbness, tingling in lower etremities
-subacute combined degneration of spinal cord in posterior and lateral columns |
|
Definition
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Term
| Thyroid deficiency can cause the folowing acquired metabolic CNS dx |
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Definition
|
|
Term
| Hyperbilirubinemia in the neonatal period can cause the follwing acquired metabolic CNS dx |
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Definition
|
|
Term
| parts of brain affected in Kernicterus |
|
Definition
globus pallidus
substantia nigra
brainstem nuclei
hippocampus |
|
|
Term
| Rh incompatibility w mother at birth can cause hyperbilirubiemia and jaundice at birth: which CNS disorder? |
|
Definition
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|
Term
| Ethanol can cause diffuse atrophy of brain and atrophy of which part of cerebellum? |
|
Definition
Superior Cerebellar atrophy
Inferior is spared! |
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