并存的肌萎缩侧索硬化症和舞蹈症：病例报告及文献复习。
Coexisting amyotrophic lateral sclerosis and chorea: A case report and literature review.
机构信息
Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guizhou, China.
出版信息
Medicine (Baltimore). 2022 Dec 30;101(52):e32452. doi: 10.1097/MD.0000000000032452.
BACKGROUND
Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare.
CASE REPORT
We present the case of a 48-year-old man with ALS and chorea; the diagnostic certainty was high based on clinical examination results. Combining the data from literature, we analyzed the characteristics of patients with ALS and chorea. We found that ALS coexisting with chorea is very rare, but is often hereditary with a genetic mutation. Most patients with ALS and chorea are caused by abnormal amplification of a CAG sequence in the HTT gene, and these patients have a mild course of disease. The FUS, VCP, and SETX genes also have low mutation frequencies in patients with ALS and chorea.
CONCLUSION
The abnormal amplification of a CAG sequence in the HTT gene in ALS with chorea has an obvious familial genetic tendency, and most patients have a mild disease course.
背景
肌萎缩侧索硬化症（ALS）合并舞蹈症非常罕见。
病例报告
我们报告了一例 48 岁男性 ALS 合并舞蹈症病例；基于临床检查结果，诊断确定性很高。结合文献中的数据，我们分析了伴有舞蹈症的 ALS 患者的特征。我们发现，ALS 合并舞蹈症非常罕见，但通常具有遗传突变。伴有舞蹈症的 ALS 患者中大多数是由于 HTT 基因中的 CAG 序列异常扩增引起的，这些患者的病程较轻。FUS、VCP 和 SETX 基因在伴有舞蹈症的 ALS 患者中的突变频率也较低。
结论
伴有舞蹈症的 ALS 中 HTT 基因 CAG 序列的异常扩增具有明显的家族遗传倾向，大多数患者的病程较轻。
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