Flashcards in CNS Metabolic Diseases Deck (22):
This is the typical pattern of inheritance for neuronal storage diseases
What are the two types of neuronal storage diseases?
neuronal ceroid lipofuscinosis
What is the particle that accumulates in cells associated with cellular aging?
Broadly, what is the pathology of neuronal ceroid lipofuscinosis?
lipofuscin accumulates due to an unknown metabolic process, is stored in lysosomes and ultimately damages cells
Pathology of Tay-Sachs disease
Hex-A (hexosamidase-A) deficiency causing buildup of gangliosides
Typical presentation of Tay-Sachs disease
baby that was healthy at birth not meeting developmental milestones
What is almost diagnostic of Tay-Sachs?
"cherry red spot" on macula
What is the pathology of the cherry red spot in Tay-Sachs?
surrounding neuronal retina tissue appears more gray than normal due to ganglioside buildup, making the macula appear cherry red
Broadly, what are leukodystrophies?
diseases affecting white matter (oligodendrocytes)
How can leukodystrophies be clinically differentiated from lysosomal storage diseases?
leukodystrophies affect motor function and not cognitive function
Pathology of Krabbe disease
buildup of galactosylsphigosine and subsequent buildup of globoid cells (fat macrophages)
What two conditions are associated with thiamine deficiency?
What is the macro-pathophys of Wernicke/Karsakoff?
hemorrhage and damage of mammillary bodies
What is confantabulation and where it is seen?
seen in Karsakoff syndrome
paralysis (often temporary) of extraoccular muscles seen in Wernicke encephalopathy
Mild disease caused by B12 deficiency
Severe disease caused by B12 deficiency
subacute combined degeneration of spinal cord
Describe subacute combined degeneration of spinal cord
lower extremity weakness, ataxia, and weakness due to B12 deficiency. may cause paraplegia but is reversible until that point.
This toxin turns the body and brain and abnormal pink color
What toxin preferentially affects the retina?
What type of ataxia does ethanol cause?
truncal--muscles closest to trunk are most affected because alcohol affects the mid-cerebellar region preferentially