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菲律宾散发性亨廷顿病:病例报告。

Sporadic Huntington's disease in the Philippines: a case report.

机构信息

Baguio General Hospital & Medical Center, Department of Neurosciences, Baguio City, Benguet, 2600, Philippines.

出版信息

Neurodegener Dis Manag. 2021 Dec;11(6):445-449. doi: 10.2217/nmt-2021-0023. Epub 2021 Nov 17.

Abstract

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  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.

摘要

亨廷顿病(HD)是一种常染色体显性遗传的神经退行性疾病,其核心临床特征为舞蹈手足徐动症、认知缺陷和行为改变。它是一种罕见的疾病,主要影响白种人群,很少见于亚洲人。迄今为止,菲律宾仅有两例经基因证实的家族性 HD 病例报告。我们报告了一例 39 岁的菲律宾男性病例,他有 10 年的进行性行为和人格改变病史,随后出现认知能力下降和舞蹈手足徐动症。神经影像学显示尾状核和壳核萎缩,壳核边缘征阳性。基因检测显示基因中存在 47 个 CAG 三核苷酸重复;家族史阴性。这是菲律宾首例经基因证实的散发性 HD 病例,也是菲律宾的第三例 HD 病例。尽管罕见,但该报告强调了在菲律宾人成年期舞蹈病中,将 HD 作为可能病因的重要性。

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