菲律宾散发性亨廷顿舞蹈病1例报告。

IF 2.3 Q3 CLINICAL NEUROLOGY
Neurodegenerative disease management Pub Date : 2021-12-01 Epub Date: 2021-11-17 DOI:10.2217/nmt-2021-0023
Laurence Kristoffer J Batino, John Hiyadan, Debbie Liquete, Manolo Flores
{"title":"菲律宾散发性亨廷顿舞蹈病1例报告。","authors":"Laurence Kristoffer J Batino,&nbsp;John Hiyadan,&nbsp;Debbie Liquete,&nbsp;Manolo Flores","doi":"10.2217/nmt-2021-0023","DOIUrl":null,"url":null,"abstract":"<p><p>Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the <i>Huntingtin</i> gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":"11 6","pages":"445-449"},"PeriodicalIF":2.3000,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sporadic Huntington's disease in the Philippines: a case report.\",\"authors\":\"Laurence Kristoffer J Batino,&nbsp;John Hiyadan,&nbsp;Debbie Liquete,&nbsp;Manolo Flores\",\"doi\":\"10.2217/nmt-2021-0023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the <i>Huntingtin</i> gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.</p>\",\"PeriodicalId\":19114,\"journal\":{\"name\":\"Neurodegenerative disease management\",\"volume\":\"11 6\",\"pages\":\"445-449\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2021-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurodegenerative disease management\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2217/nmt-2021-0023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/11/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurodegenerative disease management","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/nmt-2021-0023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/11/17 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

亨廷顿舞蹈病(HD)是一种常染色体显性神经退行性疾病,其核心临床特征为舞蹈病、认知缺陷和行为改变。这是一种罕见的疾病,主要影响白种人,很少影响亚洲人。迄今为止,菲律宾仅报告了两例经基因证实的家族性HD病例。我们报告一名39岁菲律宾男性的病例,他有10年的进行性行为和人格改变史,随后出现认知能力下降和舞蹈运动失调。神经影像学显示尾状核及壳核萎缩伴壳核边缘征。基因检测显示亨廷顿基因中有47个CAG三核苷酸重复;家族史为阴性。这是菲律宾第一例经基因证实的散发性疟疾病例,也是第三例。尽管罕见,本报告强调了将HD作为菲律宾成人发病舞蹈病可能原因的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sporadic Huntington's disease in the Philippines: a case report.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the Huntingtin gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.

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
CiteScore
4.30
自引率
0.00%
发文量
35
×
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