Skin pathology in ALS: Diagnostic implications and biomarker potential

Authors

  • Ying Gao Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China https://orcid.org/0009-0006-7573-1619
  • Yanchao Lu Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China https://orcid.org/0009-0000-0426-2559
  • Ranran Chen Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China
  • Shumin Zhao Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China
  • Jialing Liu Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China
  • Sutian Zhang Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China
  • Xue Bai Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China
  • Jingjing Zhang Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China https://orcid.org/0000-0002-4836-9304

DOI:

https://doi.org/10.17305/bb.2025.12100

Keywords:

Amyotrophic lateral sclerosis, ALS, skin, biomarkers, diagnosis, protein aggregation

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of motor neurons in the spinal cord and brain, resulting in motor deficits and muscle atrophy. Approximately 5–10% of ALS patients are familial (fALS), while the rest are sporadic (sALS). Currently, early diagnosis of ALS cannot be achieved based on clinical manifestations and electromyography due to the lack of effective and easily available biomarkers. The skin and central nervous system (CNS) share the same embryonic origin. Several skin biomarkers have been found in many neurodegenerative diseases, such as abnormal deposition of pathological α-synuclein (α-Syn) in Parkinson's disease. Thus, molecular changes in the skin associated with ALS-specific pathological events could readily be detected and become biomarkers for ALS through skin testing. Here, we summarize the literature on pathological changes in the skin of ALS patients and animal models, including structural abnormalities of the skin, reduced density of skin nerve fibers, abnormal protein aggregation, altered mitochondrial morphology and function, and dysregulation of skin inflammation, which may be useful for early diagnosis and monitoring of ALS progression.

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Skin pathology in ALS: Diagnostic implications and biomarker potential

Published

02-04-2025

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How to Cite

1.
Skin pathology in ALS: Diagnostic implications and biomarker potential. Biomol Biomed [Internet]. 2025 Apr. 2 [cited 2025 Apr. 6];. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/12100