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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

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

Spagnolo Francesca F Monfrini Edoardo E Pinto Vincenza V Di Maggio Giovanni G De Marco Paolo P Comi Giacomo P GP Rini Augusto A Di Fonzo Alessio A

Clinical parkinsonism & related disorders 20230607

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. ...[more]

PMID: 37388713

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