疑似多系统萎缩的脊髓小脑性共济失调17型1例并文献复习  

Spinocerebellar ataxia 17 resembling multiple system atrophy:a case report and literature review

作　　者：郭志慧 林豪杰 金莉蓉 Guo Zhihui;Lin Haojie;Jin Lirong(Department of Neurology,Zhongshan Hospital,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院神经内科,上海200032

出　　处：《中华神经科杂志》2025年第1期87-94,共8页Chinese Journal of Neurology

摘　　要：脊髓小脑性共济失调17型(SCA17)是一种常染色体显性遗传性小脑共济失调,由TBP基因内的三核苷酸重复扩增引起。根据其重复扩增次数多寡分为:低数量扩增不完全外显、长片段扩增完全外显。文中报道1例临床表现疑似多系统萎缩的SCA17患者,经基因检测发现其TBP基因CAG/CAA重复扩增次数为43次。进一步回顾先前报道的CAG/CAA低数量扩增的SCA17病例发现,SCA17临床表现具有高度异质性,临床医生需对SCA17有足够的认识。建议对于临床诊断疑似多系统萎缩患者,即使其临床特征及影像学表现更支持该散发性神经退行性疾病,SCA17都应被列为鉴别诊断之一。Spinocerebellar ataxia 17(SCA17)is an autosomal dominant cerebellar ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box binding protein(TBP)gene.According to CAG size range,there are 2 clusters:reduced-penetrance in low-range expansions and full-penetrance in larger expansions.Here,a patient genetically diagnosed with SCA17 and with 43 CAG repeats in the TBP gene,presenting symptoms resembling multiple system atrophy(MSA),is reported.Further review of previously reported cases of SCA17 with a small range of expansions shows the clinical manifestations of SCA17 are highly heterogeneous,of which clinicians need to have sufficient awareness.For patients clinically suspected of having MSA,even if their clinical features and imaging manifestations more strongly support the sporadic neurodegenerative disease,SCA17 should still be considered as one of the differential diagnoses.

关 键 词：脊髓小脑性共济失调17型 多系统萎缩 低数量扩增 

分 类 号：R744.7[医药卫生—神经病学与精神病学]