Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.

IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY
Makoto Kobayashi
{"title":"Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.","authors":"Makoto Kobayashi","doi":"10.1186/s12883-025-04391-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 8 (SCA8) is a rare neurodegenerative disease that is caused by CAG/CTG repeat expansion in the overlapping ATXN8 and ATXN8OS genes and basically entails slowly progressive cerebellar dysfunction with resultant dysarthria, limb incoordination, and gait instability. Moreover, patients with SCA8 may also exhibit pyramidal and extrapyramidal signs, cognitive decline, and involuntary movements. Although SCA8 is an autosomal dominant inheritance disorder, it sometimes seems to be sporadic because of reduced penetrance. Due to the wide variety of neurological findings and seemingly unclear inheritance pattern, the diagnosis of SCA8 can be difficult in the absence of cerebellar signs or family history.</p><p><strong>Case presentation: </strong>A 62-year-old woman presented with involuntary movements in her right limbs that occurred intermittently for two weeks. Her medical and medication history was unremarkable and she had a paternal grandmother who was diagnosed with Parkinson's disease. Neurological examination revealed right-sided hemichorea without other abnormalities. Head magnetic resonance imaging (MRI) did not reveal acute ischemic or hemorrhagic lesions; instead, it displayed mild cerebellar atrophy. In addition, dopamine transporter-single photon emission computed tomography (DAT-SPECT) detected bilaterally decreased striatal tracer uptake. Although she had no relatives with similar symptoms or SCA, a set of genetic molecular tests for SCA was conducted because she had mild cerebellar atrophy found on MRI. It detected CTA/CTG repeat expansion in the ATXN8OS gene (18/125 repeats; normal range: 15-50). She was diagnosed with SCA8, which was considered the cause for her hemichorea. Oral haloperidol was initiated as symptomatic treatment and it largely resolved her hemichorea.</p><p><strong>Conclusions: </strong>We should remember that patients with SCA8 can present with hemichorea as the sole clinical manifestation. Moreover, DAT-SPECT may detect their nigrostriatal hypofunction even if they do not have clinically apparent parkinsonism.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"372"},"PeriodicalIF":2.2000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403888/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12883-025-04391-2","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Spinocerebellar ataxia type 8 (SCA8) is a rare neurodegenerative disease that is caused by CAG/CTG repeat expansion in the overlapping ATXN8 and ATXN8OS genes and basically entails slowly progressive cerebellar dysfunction with resultant dysarthria, limb incoordination, and gait instability. Moreover, patients with SCA8 may also exhibit pyramidal and extrapyramidal signs, cognitive decline, and involuntary movements. Although SCA8 is an autosomal dominant inheritance disorder, it sometimes seems to be sporadic because of reduced penetrance. Due to the wide variety of neurological findings and seemingly unclear inheritance pattern, the diagnosis of SCA8 can be difficult in the absence of cerebellar signs or family history.

Case presentation: A 62-year-old woman presented with involuntary movements in her right limbs that occurred intermittently for two weeks. Her medical and medication history was unremarkable and she had a paternal grandmother who was diagnosed with Parkinson's disease. Neurological examination revealed right-sided hemichorea without other abnormalities. Head magnetic resonance imaging (MRI) did not reveal acute ischemic or hemorrhagic lesions; instead, it displayed mild cerebellar atrophy. In addition, dopamine transporter-single photon emission computed tomography (DAT-SPECT) detected bilaterally decreased striatal tracer uptake. Although she had no relatives with similar symptoms or SCA, a set of genetic molecular tests for SCA was conducted because she had mild cerebellar atrophy found on MRI. It detected CTA/CTG repeat expansion in the ATXN8OS gene (18/125 repeats; normal range: 15-50). She was diagnosed with SCA8, which was considered the cause for her hemichorea. Oral haloperidol was initiated as symptomatic treatment and it largely resolved her hemichorea.

Conclusions: We should remember that patients with SCA8 can present with hemichorea as the sole clinical manifestation. Moreover, DAT-SPECT may detect their nigrostriatal hypofunction even if they do not have clinically apparent parkinsonism.

Abstract Image

Abstract Image

脊髓小脑性共济失调8型的唯一临床表现为血瘀1例。
背景:脊髓小脑性共济失调8型(SCA8)是一种罕见的神经退行性疾病,由重叠的ATXN8和ATXN8OS基因中CAG/CTG重复扩增引起,主要表现为缓慢进行性小脑功能障碍,导致构音障碍、肢体不协调和步态不稳定。此外,患有SCA8的患者还可能表现出锥体和锥体外体征、认知能力下降和不自主运动。虽然SCA8是一种常染色体显性遗传疾病,但由于外显率降低,它有时似乎是散发性的。由于各种各样的神经学表现和似乎不明确的遗传模式,在没有小脑体征或家族史的情况下,SCA8的诊断可能很困难。病例介绍:一名62岁女性,表现为右肢间歇性不自主运动两周。她的医疗和用药史并不引人注目,她的祖母被诊断出患有帕金森病。神经学检查显示右侧胆道偏曲,无其他异常。头部磁共振成像(MRI)未显示急性缺血性或出血性病变;相反,它显示轻度小脑萎缩。此外,多巴胺转运-单光子发射计算机断层扫描(DAT-SPECT)检测到双侧纹状体示踪剂摄取减少。虽然她没有亲属有类似症状或SCA,但由于MRI发现她有轻微的小脑萎缩,因此对她进行了一组SCA的遗传分子检测。检测到ATXN8OS基因中CTA/CTG重复扩增(18/125重复,正常范围:15-50)。她被诊断出患有SCA8,这被认为是她贫血的原因。口服氟哌啶醇作为对症治疗,并在很大程度上解决了她的血漏。结论:我们应该记住,SCA8患者可能以血凝为唯一的临床表现。此外,即使他们没有临床上明显的帕金森病,DAT-SPECT也可以检测到他们的黑质纹状体功能减退。
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
BMC Neurology
BMC Neurology 医学-临床神经学
CiteScore
4.20
自引率
0.00%
发文量
428
审稿时长
3-8 weeks
期刊介绍: BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
×
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:604180095
Book学术官方微信