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Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.

Cerebellum (London, England) - 1 Feb 2021

Duan Xiaohui, Hao Ying, Cao Zhenhua, Zhou Chao, Zhang Jin, Wang Renbin, Sun Shaojie, Gu Weihong

Abstract excerpt

Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause autosomal recessive cerebellar ataxia (ARCA) type 1 with highly variable clinical phenotypes. The aim of this study was to describe the phenotypic-genetic spectrum of SYNE1-related ARCA1 patients in the Chinese population. We screened 158 unrelated patients with autosomal recessive or sporadic ataxia for variants in...

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PMID: 32889669
DOI: 10.1007/s12311-020-01186-8

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