Gao Ying, Lu Yanchao, Chen Ranran, Zhao Shumin, Liu Jialing, Zhang Sutian, Bai Xue, Zhang Jingjing
Department of Neurology, Medical Research Center, Chifeng Municipal Hospital, Chifeng, China; Chifeng Clinical Medical College of Inner Mongolia Medical University, Chifeng, China.
Biomol Biomed. 2025 Apr 2;26(3):368-376. doi: 10.17305/bb.2025.12100.
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.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，其特征是脊髓和大脑中的运动神经元丧失，导致运动功能障碍和肌肉萎缩。大约5-10%的ALS患者为家族性（fALS），其余为散发性（sALS）。目前，由于缺乏有效且易于获得的生物标志物，基于临床表现和肌电图无法实现ALS的早期诊断。皮肤和中枢神经系统（CNS）具有相同的胚胎起源。在许多神经退行性疾病中已发现几种皮肤生物标志物，例如帕金森病中病理性α-突触核蛋白（α-Syn）的异常沉积。因此，与ALS特异性病理事件相关的皮肤分子变化可以通过皮肤检测轻易检测到，并成为ALS的生物标志物。在此，我们总结了关于ALS患者和动物模型皮肤病理变化的文献，包括皮肤结构异常、皮肤神经纤维密度降低、异常蛋白质聚集、线粒体形态和功能改变以及皮肤炎症失调，这些可能有助于ALS的早期诊断和病情进展监测。
