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: Chengyuan Mao, Yun Su, Huiyun Wang, Liyuan Fan, Huimin Zheng, Tai Wang, Xinwei Li, Shuo Zhang, Zhengwei Hu, Haiyang Luo, Jing Yang, Changhe Shi, Yuming Xu Tags: Letter to the Editor Source Type: research