W22-L9: DNA diagnosis of neurological disorders Flashcards Preview

Matt's Block 06 - Neuro block > W22-L9: DNA diagnosis of neurological disorders > Flashcards

Flashcards in W22-L9: DNA diagnosis of neurological disorders Deck (7):
1

What characterises unstable repeat expansions?

an expansion of a segment of DNA (usually 3 or nucleotides) within the specific gene

2

What is anticipation?

Expansion size increases onset in following generations and is associated with earlier onset/greater severity of symptoms

3

What is a mechanism of expansion?

Slipped mispairing

4

What is the inheritance of Huntington Disease?

Autosomal Dominant

5

What is the inheritance of Spinocerebellar Ataxias?

Autosomal Dominant

6

What is the inheritance of Friedrich Ataxia?

Autosomal recessive

7

What is the pathology of Huntington's disease?

Progressive degeneration and loss of medium spiny neurons in striatum of the basal ganglia

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