Neurodegenerative Disorders Flashcards
1
Q
What is the pathophysiology of Sphingolipidoses?
A
Intracellular storage of a normal lipid component of cell membrane from a defect in catabolism of that compound.
(Six categories: Neimann-Pick, Gaucher, GM1, GM2, Krabbe, Metachromatic leukodystrophy)
2
Q
Features of Tay-Sachs disease?
A
Intellectual disability (or failure to progress)
Acquired macrocephaly (accumulation of GM2 in brain)
Jewish
Cherry red spot
Exaggerated startle reflex
3
Q
Inheritance pattern of Adrenoleukodystrophy (ALD)?
A
X-linked recessive
4
Q
Pathophysiology of ALD?
A
Accumulation fo VLCFA in adrenal and neuronal tissue
5
Q
Menkes disease is caused by?
A
Sex linked recessive, Copper transport disorder
6
Q
Genetic mutation in Rett syndrome?
A
MECP2 gene
7
Q
What does leukodystrophy mean in Greek?
A
Leuko = white Dystrophy = destruction of
