Francesca Spagnolo , Edoardo Monfrini , Vincenza Pinto , Giovanni Di Maggio , Paolo De Marco , Giacomo P. Comi , Augusto Rini , Alessio Di Fonzo
{"title":"Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant","authors":"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","DOIUrl":null,"url":null,"abstract":"<div><p>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 <em>SYNE1</em> 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.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"9 ","pages":"Article 100205"},"PeriodicalIF":1.8000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Parkinsonism Related Disorders","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590112523000233","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
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.
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