Coexisting amyotrophic lateral sclerosis and chorea: A case report and literature review

Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare. 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...

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Bibliographic Details
Published in:Medicine (Baltimore) 2022-12, Vol.101 (52), p.e32452-e32452
Main Authors: Zhang, Anni, Xu, Hongbei, Huang, Jing, Gong, Huilan, Guo, Shipeng, Lei, Xiaoyang, He, Dian
Format: Article
Language:English
Subjects:
Amyotrophic Lateral Sclerosis - complications
Amyotrophic Lateral Sclerosis - diagnosis
Amyotrophic Lateral Sclerosis - genetics
Chorea - etiology
Chorea - genetics
Clinical Case Report
DNA Helicases - genetics
Humans
Male
Middle Aged
Multifunctional Enzymes
Mutation
Mutation Rate
RNA Helicases - genetics
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Summary:Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare. 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. 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.
ISSN:1536-5964
0025-7974
1536-5964
DOI:10.1097/MD.0000000000032452