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脊髓小脑性共济失调11型1例 被引量：1

Spinocerebellar ataxia type 11:a case report
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摘要 脊髓小脑性共济失调(SCA)是一种高度遗传异质性常染色体显性遗传性疾病,包括多种亚型,SCA11型是其罕见亚型,致病基因为TTBK2基因。现报道1例SCA11型患者,经基因检测发现患者TTBK2基因存在c.1284dupA移码突变。复习文献发现,SCA11目前只有6个家系病例报道,本例患者的变异位点在人类基因突变数据库未有报道,为罕见变异。 Spinocerebellar ataxia(SCA)is a group of highly heterogeneous autosomal dominant genetic disease,including many subtypes.SCA11 is a rare subtype of SCA,and is caused by mutant TTBK2 gene.A case of SCA11 was reported in this article.Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene.Literature review found that only 6 pedigrees of SCA11 have been reported,but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.
作者 曾敏 张亚茹 陈科良 崔梅 郁金泰 Zeng Min;Zhang Yaru;Chen Keliang;Cui Mei;Yu Jintai(Department of Neurology,Huashan Hospital Affiliated to Fudan University,Shanghai 200040,China)
机构地区 复旦大学附属华山医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2022年第2期156-159,共4页 Chinese Journal of Neurology
关键词 脊髓小脑性共济失调11 tau微管蛋白激酶2 突变 小脑性共济失调 Spinocerebellar ataxia 11 Tau-tubulin kinase 2 Mutation Cerebellar ataxia
分类号 R744.7 [医药卫生—神经病学与精神病学]
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中华神经科杂志
2022年 第2期

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