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
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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。
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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.

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