Autosomal
dominant - distal short arm of chromosome 4
Occurs
worldwide, 5 in 100 000
Cerebral
atrophy
Loss
of small neurones in caudate and putamen
Imaging
shows atrophy of the caudate nucleus
Cerebral
chemical abnormalities, e.g. lack of acetylcholine in the striatum, lack of
GABA in the substantia nigra
Jerky,
quasi-purposive, may be fidgety
Features
usually present in mid life
Progressive
chorea and dementia in middle life
Death
occurs in 10 – 20 years
Many
patients have already had children
Symptomatic
only