Abstract：
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.
摘要：
亨廷顿病（HD）是一种以舞蹈病为特征的显性遗传性神经系统疾病，精神症状,和认知能力下降，但通常缺乏肌肉萎缩和虚弱。我们在此报告了一例遗传证实的HD，显示进行性全身无力，并发现由于肌萎缩侧索硬化症（ALS）引起的上下运动神经元受累。当前患者和先前报道的HD和ALS并发症病例表明，亨廷顿基因中的胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复扩增可能在引起两种神经系统疾病中具有致病作用。
