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

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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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Author information

Author notes

  1. JL and FX contributed equally to this study and should be considered co-corresponding authors.

Authors and Affiliations

  1. Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuanjiagang, Yuzhong District, Chongqing, 400016, China

    Xuan Chen, Jing Luo, Wei Zheng, Qinlian Huang, Chao Du & Fei Xiao

  2. Department of Neurosurgery, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuanjiagang, Yuzhong District, Chongqing, 400016, China

    Huan Yuan

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  1. Xuan Chen
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Contributions

XC was responsible for drafting and revision of the manuscript. WZ, QLH, and CD were responsible for collecting the data. HY was responsible for revision of the manuscript. JL and FX were responsible for concept and revision of the manuscript.

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Correspondence to Jing Luo or Fei Xiao.

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The authors declare no competing interests.

Ethical approval

This study was approved by the Ethics Committee of The First Affiliated Hospital of Chongqing Medical University (2022-59).

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Informed consent to participate and publication from the patient was also obtained.

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Chen, X., Luo, J., Zheng, W. et al. Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review. Neurol Sci 45, 1523–1527 (2024). https://doi.org/10.1007/s10072-023-07141-9

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  • DOI: https://doi.org/10.1007/s10072-023-07141-9

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