Shared Flashcard Set

Details

Degenerative and Metabolic CNS disorders
Degenerative and Metabolic CNS disorders
22
Medical
Graduate
04/18/2010

Additional Medical Flashcards

 


 

Cards

Term
Genes linked to AD
Definition
Chr 1, 14, 21 (BAPP) - auto dom
Chr 19 (ApoE4) - susceptibility
Chr 12, 6, 10 - susceptibility
Term
Which disease do these describe?
Neuritic plaques
Neurofibrillary tangles
Amyloid angiopathy
Granulovacuolar degeneration
Hirano bodies
Definition
Alzheimer's disease
Term
granulovacuolar degeneration and hirano bodies present in _____________
Definition
Alzheimer's disease
Term
Lewy bodies present in
Definition
Parkinson's disease
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
Definition
Huntington's disease
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
Definition
Huntington's
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
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
Definition
ALS
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
Definition
Tay Sachs disease
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
Gaucher's
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
Krabbe's Leucodystrophy
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
Wilson's disease
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
B12
Term
Thyroid deficiency can cause the folowing acquired metabolic CNS dx
Definition
cretinism
Term
Hyperbilirubinemia in the neonatal period can cause the follwing acquired metabolic CNS dx
Definition
Kernicterus
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
Kernicterus
Term
Ethanol can cause diffuse atrophy of brain and atrophy of which part of cerebellum?
Definition
Superior Cerebellar atrophy
Inferior is spared!
Supporting users have an ad free experience!