Development of Research on Huntington Disease in China.

ABSTRACT: Huntington disease (HD) is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or behavioral disturbance. It results from an expansion in the number of CAG repeats in the first exon of the huntingtin (HTT) gene. In China, since the first case report in 1959, the knowledge of this disorder has been involving a lot, especially in the latest decade. In this review, we meta-analysis and summarize the research reports that were published by Chinese researchers since 1959, so that researchers whose native language were not Chinese can get a general idea of the research development of HD in China. Briefly, the research of HD in China can be broadly divided into three stages. Firstly, before 1993, there were scattered case reports of HD that were solely based on Clinical features and family history. Then, with the discovery of the HD gene in 1993, it became possible for the genetic confirmation of the reported cases that made the diagnosis more accurate and informative. In the last few years, Chinese researchers who were active in the HD research started to build their own database to study the clinical and genetic feature of this disorder and also collaborated a lot in this field. The progress outlined in this review indicates the beginning of an exciting new era in HD research in China.

SUBMITTER: Li HL 

PROVIDER: S-EPMC5567509 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature