晚发性亨廷顿病:一个病例报告和文献综述
Carlos Gonçalves1, Ana Sofia Ferreira2, André Calheiros1
1Internal Medicine, Unidade Local de Saúde do Alto Minho (ULSAM) Hospital Conde de Bertiandos, Ponte de Lima, PRT.
Cureus
|February 27, 2026
概括
晚期发病的亨廷顿病 (LoHD) 可以在老年人中呈现异常. 这一案例凸显了在老年患有胆病和认知衰退的患者中考虑LoHD的重要性,即使没有家族病史.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 老年病的医生 老年病的医生
背景情况:
- 亨廷顿病 (HD) 是一种由CAG三核酸重复扩张在亨廷丁 (HTT) 基因中引起的神经退行性疾病.
- 晚期发病的亨廷顿病 (LoHD),在60岁以后出现,不常见,在诊断上具有挑战性.
- 典型的HD发作是在成年期中期,但LoHD需要具体的诊断考虑.
研究的目的:
- 报告一个80岁的老人被诊断出患有LoHD的病例.
- 为了说明老年人LoHD的诊断复杂性.
- 强调需要将LoHD纳入晚发神经症状的差异诊断.
主要方法:
- 一个80岁的男性患者的病例报告.
- 临床评估,包括评估无意减肥,胆发病和认知能力下降.
- 在HTT基因中对CAG重复扩张进行遗传检测.
- 神经成像 (MRI) 评估大脑结构变化.
主要成果:
- 患者呈现出逐渐减肥,胆发病和认知能力下降的情况.
- 基因检测证实了LoHD与39个CAG重复.
- 神经成像显示出与大脑小血管疾病 (CSVD) 相一致的缺血性白内障.
结论:
- 在晚发性胆固醇和认知障碍的差异诊断中应考虑LoHD.
- 大脑小血管疾病可以并存并使LoHD的诊断复杂化.
- 在LoHD的诊断挑战强调了基因测试和全面评估的重要性.
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