GN 1.5.1 Clinical Correlations Huntington Disease Flashcards

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1
Q

What determines the penetrance of the HD?

A

Length of the nucleotide repeat

Short:normal, medium:at risk, large:HD

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2
Q

What are the main three classes of abnormalities associated w/ HD?

A

Movement (chorea), Cognitive, Psychiatric (depression/anxiety)

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3
Q

What is the term for the increase in repeats from generation to generation?

A

Anticipation

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4
Q

Once symptomatic, what is the average life expectancy?

A

15 to 18 years

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5
Q

What is the genetic basis of Huntington DZ?

A

Trinucleotide repeat

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6
Q

What is the mean age of onset?

A

35 to 44 y/o

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7
Q

What is the inheritance pattern of HD?

A

Autosomal Dominant

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