A Chinese Han pedigree with Huntington disease mimicking spinocerebellar ataxia

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive chorea, dystonia, and cognitive and psychiatric decline. It is caused by the expansion of CAG trinucleotide repeats in exon 1 of huntingtin (HTT) [1], with 36 –39 repeats associated with reduced penetrance and ≥40 with full penetrance.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research