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

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 co...

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Autores principales: Spagnolo, Francesca, Monfrini, Edoardo, Pinto, Vincenza, Di Maggio, Giovanni, De Marco, Paolo, Comi, Giacomo P., Rini, Augusto, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Correspondence (including Letter to the Editor)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300247/
https://www.ncbi.nlm.nih.gov/pubmed/37388713
http://dx.doi.org/10.1016/j.prdoa.2023.100205
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author Spagnolo, Francesca
Monfrini, Edoardo
Pinto, Vincenza
Di Maggio, Giovanni
De Marco, Paolo
Comi, Giacomo P.
Rini, Augusto
Di Fonzo, Alessio
author_facet Spagnolo, Francesca
Monfrini, Edoardo
Pinto, Vincenza
Di Maggio, Giovanni
De Marco, Paolo
Comi, Giacomo P.
Rini, Augusto
Di Fonzo, Alessio
author_sort Spagnolo, Francesca
collection PubMed
description 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.
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spelling pubmed-103002472023-06-29 Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant Spagnolo, Francesca Monfrini, Edoardo Pinto, Vincenza Di Maggio, Giovanni De Marco, Paolo Comi, Giacomo P. Rini, Augusto Di Fonzo, Alessio Clin Park Relat Disord Correspondence (including Letter to the Editor) 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. Elsevier 2023-06-07 /pmc/articles/PMC10300247/ /pubmed/37388713 http://dx.doi.org/10.1016/j.prdoa.2023.100205 Text en © 2023 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Correspondence (including Letter to the Editor)
Spagnolo, Francesca
Monfrini, Edoardo
Pinto, Vincenza
Di Maggio, Giovanni
De Marco, Paolo
Comi, Giacomo P.
Rini, Augusto
Di Fonzo, Alessio
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title_full Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title_fullStr Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title_full_unstemmed Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title_short Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
title_sort tremulous spastic ataxia in a patient with a homozygous truncating syne1 variant
topic Correspondence (including Letter to the Editor)
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300247/
https://www.ncbi.nlm.nih.gov/pubmed/37388713
http://dx.doi.org/10.1016/j.prdoa.2023.100205
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