A. Bocoum, M. Ouologuem, L. Cissé, F. Essop, Souleymane dit Papa Coulibaly, Nadine Botha, Cheick A K Cissé, Alassane dit Baneye Maiga, A. Krause, G. Landouré
{"title":"The First Case of Huntington’s Disease like 2 in Mali, West Africa","authors":"A. Bocoum, M. Ouologuem, L. Cissé, F. Essop, Souleymane dit Papa Coulibaly, Nadine Botha, Cheick A K Cissé, Alassane dit Baneye Maiga, A. Krause, G. Landouré","doi":"10.5334/tohm.859","DOIUrl":null,"url":null,"abstract":"Background: Huntington’s disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa. Case report: We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients. Discussion: This study supports the hypothesis that HDL2 may be widely spread across Africa. Highlights We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tremor and Other Hyperkinetic Movements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/tohm.859","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Huntington’s disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa. Case report: We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients. Discussion: This study supports the hypothesis that HDL2 may be widely spread across Africa. Highlights We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
