Francesca Spagnolo , Edoardo Monfrini , Vincenza Pinto , Giovanni Di Maggio , Paolo De Marco , Giacomo P. Comi , Augusto Rini , Alessio Di Fonzo
{"title":"一例具有纯合截短型SYNE1变体的患者的震颤性痉挛性共济失调","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":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":null,\"pages\":null},\"PeriodicalIF\":1.9000,\"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}","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}
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 condition, with important implications for clinic-genetic counselling.