脊髓小脑共济失调
共济失调
小脑共济失调
外显子组测序
三核苷酸重复扩增
发病年龄
遗传学
医学
生物
突变
神经科学
基因
病理
疾病
等位基因
作者
Thiago Y Tonholo Silva,Augusto Bragança Reis Rosa,Caio Robledo Quaio,Dineke S. Verbeek,José Luiz Pedroso,Orlando Graziani Póvoas Barsottini
出处
期刊:Neurology Genetics
[Ovid Technologies (Wolters Kluwer)]
日期:2021-06-01
卷期号:7 (3)
被引量:3
标识
DOI:10.1212/nxg.0000000000000581
摘要
Spinocerebellar ataxias (SCAs) are a large group of genetically and phenotypically heterogeneous autosomal dominant, neurodegenerative disorders manifesting with progressive cerebellar ataxia usually with adult-onset.1 Currently, 48 subtypes of SCAs are described; of which, for 40 SCAs, the genes have been identified. The most frequent types are related to coding repeat expansions including SCA1, SCA2, SCA3, SCA6, and SCA7. However, for unusual SCA types, whole exome sequencing (WES) is necessary to identify the genetic cause. Late-onset cerebellar ataxia can be caused by several genetic mutations, but a large percentage of patients remain undiagnosed after WES. The authors would like to thank FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo) for having funded this study.
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