SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman

Q3 Medicine
Narendrakumar H Barad, C. Sankhla
{"title":"SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman","authors":"Narendrakumar H Barad, C. Sankhla","doi":"10.4103/aomd.aomd_32_23","DOIUrl":null,"url":null,"abstract":"\n Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"169 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Movement Disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/aomd.aomd_32_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

Abstract

Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.
一名印度妇女因 SCA 15 而出现帕金森-肌张力障碍、震颤和精神病
脊髓小脑性共济失调(SCA)是一组遗传性和进行性神经系统疾病,其特点是成年后发病,通常呈常染色体显性遗传。这些疾病通常累及多个脑区,包括小脑、脊髓、基底节、脑干和皮质区域,导致不同的临床表现。其中,SCA 15 被认为是一种成人发病、缓慢进展的小脑综合征,通常伴有其他各种神经系统表现。在本报告中,我们介绍了一例经基因确诊的 SCA 15 患者帕金森病-肌张力障碍综合征并发小脑特征的新型临床表型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Annals of Movement Disorders
Annals of Movement Disorders Medicine-Surgery
CiteScore
0.60
自引率
0.00%
发文量
0
审稿时长
17 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信