Recently, pathogenic expansions (range 40–64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e., >39 repeats). The co-occurrence of MND and chorea has been reported in previous cases. Subjects showing both ALS and HD signs and carrying HTT pathogenic expansions in two generations of the same kindred have never been reported so far. The study of the overlap of disease mechanisms at the cellular level between TDP-43 and Huntingtin is relevant in an era offering promising strategies of targeted treatments in neurodegenerative disorders.

中文翻译：

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一对母亲和她的女儿携带 HTT 基因的致病性扩增，其表型包括运动神经元病和亨廷顿病

最近，在诊断为单纯额颞叶痴呆/肌萎缩侧索硬化症 (FTD/ALS) 的患者中发现了HTT基因的致病性扩增（范围 40-64 个 CAG 重复序列）。我们报告了一位患有与运动神经元疾病 (MND) 症状相关的亨廷顿病 (HD) 的母亲和她患有 ALS 并伴有轻微 HD 症状的女儿，两人都携带 HTT 基因的致病等位基因（即 > 39个重复）。MND 和舞蹈病同时发生的病例已有报道。迄今为止，尚未报道过在同一家族的两代人中同时表现出 ALS 和 HD 症状并携带HTT致病性扩增的受试者。TDP-43 和亨廷顿蛋白在细胞水平上疾病机制重叠的研究在提供神经退行性疾病靶向治疗有前景策略的时代具有重要意义。