Term
|
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
|
|
Term
granulovacuolar degeneration and hirano bodies present in _____________ |
|
Definition
|
|
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 |
|
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 |
|
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 |
|
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
|
|
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
|
|
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
|
|
Term
Thyroid deficiency can cause the folowing acquired metabolic CNS dx |
|
Definition
|
|
Term
Hyperbilirubinemia in the neonatal period can cause the follwing acquired metabolic CNS dx |
|
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
|
|
Term
Ethanol can cause diffuse atrophy of brain and atrophy of which part of cerebellum? |
|
Definition
Superior Cerebellar atrophy Inferior is spared! |
|
|