西非马里首例亨廷顿氏病 2 型病例

IF 2.5 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements Pub Date : 2024-04-02 DOI:10.5334/tohm.859

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

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引用次数: 0

摘要

背景：据报道，亨廷顿氏病 2 型（HDL2）仅见于非洲裔患者，其中大部分来自南非。病例报告：我们报告了马里的三名患者，包括一名原发性患者及其两名子女，他们在征得同意后接受了神经科和精神科医生的检查。他们的年龄在 28 岁到 56 岁之间。两名年轻患者主要表现为精神症状，而父亲则主要表现为运动症状。基因检测发现，这三名患者的嗜交联蛋白-3（JPH3）基因中都有一个 40 CTG 重复扩增的杂合基因。讨论：本研究支持 HDL2 可能广泛分布于非洲的假设。亮点我们在此报告了西非的首例HDL2病例，这表明HDL2广泛分布于非洲大陆，基因检测的普及可能会发现其他病例。

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The First Case of Huntington’s Disease like 2 in Mali, West Africa

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.

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来源期刊

Tremor and Other Hyperkinetic Movements CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

4.50%

发文量

审稿时长

6 weeks