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

Autor:	Spagnolo F; Neurological Department, A. Perrino's Hospital, Brindisi, Italy., Monfrini E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Pinto V; Neurological Department, A. Perrino's Hospital, Brindisi, Italy., Di Maggio G; Neurological Department, A. Perrino's Hospital, Brindisi, Italy., De Marco P; Neurological Department, A. Perrino's Hospital, Brindisi, Italy., Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Rini A; Neurological Department, A. Perrino's Hospital, Brindisi, Italy., Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Jazyk:	angličtina
Zdroj:	Clinical parkinsonism & related disorders [Clin Park Relat Disord] 2023 Jun 07; Vol. 9, pp. 100205. Date of Electronic Publication: 2023 Jun 07 (Print Publication: 2023).
DOI:	10.1016/j.prdoa.2023.100205
Abstrakt:	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. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2023 The Authors.)
Databáze:	MEDLINE
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