Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family

Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. Nesprin-1, encoded by SYNE1, is widely expressed in various tissues, especially in...

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Bibliographic Details
Main Authors: Nannan Qian, Taohua Wei, Wenming Yang, Jiuxiang Wang, Shijie Zhang, Shan Jin, Wei Dong, Wenjie Hao, Yue Yang, Ru Huang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
case report
autosomal recessive cerebellar ataxia
ARCA-1
SYNE1 ataxia
SYNE1 gene
SCAR8
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.795188/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.795188/full

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