Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant.

ABSTRACT: We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.

SUBMITTER: Spagnolo F 

PROVIDER: S-EPMC10300247 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature