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

Francesca Spagnolo; Edoardo Monfrini; Vincenza Pinto; Giovanni Di Maggio; Paolo De Marco; Giacomo P Comi; Augusto Rini; Alessio Di Fonzo

doi:10.1016/j.prdoa.2023.100205

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

Clin Park Relat Disord. 2023 Jun 7:9:100205. doi: 10.1016/j.prdoa.2023.100205. eCollection 2023.

Authors

Francesca Spagnolo¹, Edoardo Monfrini², Vincenza Pinto¹, Giovanni Di Maggio¹, Paolo De Marco¹, Giacomo P Comi², Augusto Rini¹, Alessio Di Fonzo²

Affiliations

¹ Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
² Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

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.

Keywords: ARCA; Ataxia; SYNE1; Spasticity; Tremor.