- 期刊
Molecular, Clinical Studies in Spinocerebebellar Ataxia Type 2
第二型脊髓小腦運動失調症基因及臨床診斷
摘要
第二型脊隨小腦運動失調症候群簡稱SCA2 (spinocerebellar ataxia type 2)，其中基因的病變在於染色體12q23-q24.l區段中之CAG三核酸重複序列不正常延長導致之疾病。本項家族研究主要是報導一家三代家族性SCA2疾病，病患總共有五位男性三位女性發病，病人發病年齡有逐代提早之現象，並且合併進行性運動失調及姿態性和運動顫抖，其中三位男性有所謂的聽覺性肌抽躍。其中一患者接受PCR基因分析，發現其SCA2基因有一股為正常之配偶基因，其長度為22CAG三核酸重複序列，另一股為不正常延長之39CAG三核酸重複序列，並造成小腦萎縮疾病之產生，此項結果亦符合白種人高加索族群調查之結果。同時亦發現此一台灣家族合併小腦運動失調症候群亦可以表現聽覺性肌抽躍，此乃不同於其他國外SCA2族群之表現。
並列摘要
The spinocerebellar atrophy type 2 (SCA2) is caused by a CAG trinucleotide repeat expansion within ataxin-2 gene that has been mapped to chromosome 12q23-q24.1. Herein we present a 40-year-old native Taiwanese male and his family members. The patient presented with progressive ataxia and severe postural and action tremor. Three affected subjects also had prominent auditory myoclonus, DNA analysis of the SCA2 gene in this patient revealed one normal allele containing 22 CAG repeats and one expanded allele containing 39 CAG repeats. Such a finding is comparable to that observed in Caucasians, for which normal allele in the SCA2 gene contained 22-23 CAG repeats and the mutant allele contained more than 34 repeats. This is the first family study of SCA2 with the clinical manifestation involving auditory myoclonus and ataxia gait.