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Neurological Sciences

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31-10-2023 | Amyotrophic Lateral Sclerosis | Original Article

Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review

Authors: Xuan Chen, Jing Luo, Wei Zheng, Qinlian Huang, Chao Du, Huan Yuan, Fei Xiao

Published in: Neurological Sciences | Issue 4/2024

Abstract

Background

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that is now recognized to involve autonomic dysfunction. The burden of autonomic dysfunction is an important factor in the quality of life and prognosis of ALS patients. This article presents the clinical characteristics of a young female ALS patient with a fused in sarcoma (FUS) gene mutation and notable hyperhidrosis.

Method

Detailed clinical characteristics of the patients were collected, and comprehensive examinations such as electrophysiological assessment, neuro-ultrasound, genetic testing, and relevant blood tests were conducted.

Result

A 24-year-old female experienced progressive weakness in both lower limbs for over 5 months, along with excessive sweating on both palms and feet. A positive skin iodine-starch test was observed. Electromyography revealed extensive neurogenic damage and prolonged sympathetic skin response (SSR) latency in both lower limbs. Full exon gene sequencing showed a heterozygous mutation c.1574C>T (p.Pro525Leu) in the FUS gene.

Conclusion

The pathogenesis of ALS remains unclear at present. This case underscores the presence of autonomic nervous symptoms in ALS associated with FUS mutation and highlights the importance of early diagnosis and timely treatment intervention to enhance patient prognosis.

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Title: Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review
Authors: Xuan Chen
Jing Luo
Wei Zheng
Qinlian Huang
Chao Du
Huan Yuan
Fei Xiao
Publication date: 31-10-2023
Publisher: Springer International Publishing
Keywords: Amyotrophic Lateral Sclerosis
Hyperhidrosis
Published in: Neurological Sciences / Issue 4/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07141-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review

Abstract

Background

Method

Result

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Method

Result

Conclusion

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