Neurodegenerative Disorders Flashcards Preview

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Flashcards in Neurodegenerative Disorders Deck (7)
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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