并发肌萎缩侧索硬化症和亨廷顿氏病：病例报告

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-01-15 Epub Date: 2024-06-20 DOI:10.2169/internalmedicine.3232-23

Ryoma Takahashi, Minori Furuta, Kazuaki Nagashima, Yoshio Ikeda

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引用次数: 0

摘要

亨廷顿氏病（Huntington's disease，HD）是一种显性遗传的神经系统疾病，以舞蹈症、精神症状和认知能力下降为特征，但通常没有肌肉萎缩和无力。我们在此报告了一例经基因确诊的 HD 病例，该病例表现为进行性全身乏力，并伴有肌萎缩性脊髓侧索硬化症（ALS）导致的上下运动神经元受累。该患者以及之前报道的并发 HD 和 ALS 的病例表明，亨廷基因中胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复扩增可能是导致这两种神经系统疾病的致病因素。

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Concurrent Amyotrophic Lateral Sclerosis and Huntington's Disease.

Huntington's disease (HD) is a dominantly inherited neurological disorder characterized by chorea, psychiatric symptoms, and cognitive decline but typically lacks muscular atrophy and weakness. We herein report a case of genetically confirmed HD showing progressive systemic weakness with findings of upper and lower motor neuron involvement due to amyotrophic lateral sclerosis (ALS). The current patient and the previously reported cases with complications of HD and ALS indicate that cytosine-adenine-guanine (CAG) repeat expansion in the huntingtin gene might have a pathogenic role in causing the two neurological disorders.

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.