• Anni Zhang, Hongbei Xu, Jing Huang, Huilan Gong, Shipeng Guo, Xiaoyang Lei, and Dian He.
• Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guizhou, China.
• Medicine (Baltimore). 2022 Dec 30; 101 (52): e32452e32452.

BackgroundAmyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare.Case ReportWe 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.ConclusionThe 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.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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