作者
Ashok Kumar, Sandeep Kumar Singh, Vijay Kumar, Dinesh Kumar, Sarita Agarwal, Manoj Kumar Rana
发表日期
2015/2/10
来源
Gene
卷号
556
期号
2
页码范围
91-97
出版商
Elsevier
简介
Huntington's disease (HD) is an autosomal dominant triplet repeat genetic disease, which results in progressive neuronal degeneration in the neostriatum and neocortex, and associated functional impairments in motor, cognitive, and psychiatric domains. Although the genetic mutation caused by abnormal CAG expansion within the htt gene on chromosome 4p16.3 is identified, the mechanism by which this leads to neuronal cell death and the question of why striatal neurones are targeted both remain unknown. Patients manifest a typical phenotype of sporadic, rapid, involuntary control of limb movement, stiffness of limbs, impaired cognition and severe psychiatric disturbances. There have been a number of therapeutic advances in the treatment of HD, such as fetal neural transplantation, RNA interference (RNAi) and transglutaminase inhibitors (Tgasei). Although there is intensive research into HD and recent …
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