Examination of Huntington’s disease in a Chinese family
Mingxia Yu
Xiaogai Li
Sanyun Wu
Ji Shen
Jiancheng Tu
摘要：We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington’s disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington’s disease, involuntary dance-like movements. Mag-netic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identiifed abnormally ampliifed CAG sequence repeats (>40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington’s disease, two cases were identiifed (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington’s disease. Our ifndings suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.
机标关键词：genetic diagnosismutation analysisdiagnosis of
论文发表日期：2014-01-01
页数：7( 440-446 )
英文信息