北京大学学报（医学版）2006，Vol.38Issue(1)：107-109,3.
DYT1和DYT5的临床和遗传特征
Clinical and genetic features of DYT1 and DYT5
摘要
Abstract
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD(DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.关键词
张力失调/基因/产前诊断Key words
Dystonia/Genes/Prenatal diagnosis分类
医药卫生引用本文复制引用
王小竹,Nanbert ZHONG..DYT1和DYT5的临床和遗传特征[J].北京大学学报（医学版）,2006,38(1):107-109,3.基金项目
Supported by Special Fund for Promotion of Education,Ministry of Education P.R.C （）
the Tenth"Five-year" Plan (2004BA720A03) and 211 Project 教育部教育振兴行动计划特殊专项("九八五"工程),国家"十五"科技攻关项目及国家"211工程"学科建设项目 （2004BA720A03）
