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

IF 1.8 Q3 CLINICAL NEUROLOGY Clinical Parkinsonism Related Disorders Pub Date : 2023-01-01 Epub Date: 2023-06-07 DOI:10.1016/j.prdoa.2023.100205

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":"9 ","pages":"Article 100205"},"PeriodicalIF":1.8000,"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\":\"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\":\"2023/6/7 0:00:00\",\"PubModel\":\"Epub\",\"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":"2023/6/7 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

我们描述了一例严重成人发作的进行性震颤性小脑共济失调，其锥体体征与SYNE1基因中一种罕见的纯合截断致病性变体有关（p.Arg5371*）。这与最初认为SYNE1相关共济失调是一种相对良性、缓慢进行的疾病的观点形成了对比，对临床遗传咨询具有重要意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊