USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Huntington Disease
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- autosomal dominant, delayed age of onset
- gain-of-function mutation - trinucleotide repeat expansion disorder (--> anticipation)- produces a buildup of toxic protein aggregates in neurons- caudate atrophy- ↑ dopamine, ↓ GABA, ↓ Ach
- progressive dementia- loss of motor control (chorea)- mood disturbance
- common causes of death: aspiration pneumonia, head trauma
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