Clinical phenotypes study of autosomal recessive cerebellar ataxia type 1 caused by SYNE 1 gene mutations

Objective To investigate the clinical features of autosomal recessive cerebellar ataxia type 1(ARCA1)and analyze the pathogenic variants in SYNE 1 gene.Methods A cohort of 80 probands of autosomal recessive cerebellar ataxia pedigrees excluding Friedreich ataxia were detected by whole-exome sequencing technology.