W22-L9: DNA diagnosis of neurological disorders Flashcards
1
Q
What characterises unstable repeat expansions?
A
an expansion of a segment of DNA (usually 3 or nucleotides) within the specific gene
2
Q
What is anticipation?
A
Expansion size increases onset in following generations and is associated with earlier onset/greater severity of symptoms
3
Q
What is a mechanism of expansion?
A
Slipped mispairing
4
Q
What is the inheritance of Huntington Disease?
A
Autosomal Dominant
5
Q
What is the inheritance of Spinocerebellar Ataxias?
A
Autosomal Dominant
6
Q
What is the inheritance of Friedrich Ataxia?
A
Autosomal recessive
7
Q
What is the pathology of Huntington’s disease?
A
Progressive degeneration and loss of medium spiny neurons in striatum of the basal ganglia
