中国神经再生研究(英文版) ›› 2025, Vol. 20 ›› Issue (1): 130-138.doi: 10.4103/NRR.NRR-D-23-01904

• 综述:退行性病与再生 • 上一篇    下一篇

肌萎缩侧索硬化症患者多方面超氧化物歧化酶1的表达:罕见吗?

  

  • 出版日期:2025-01-15 发布日期:2025-01-15

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?

Ilaria Martinelli1, 2, Jessica Mandrioli1, 3, *, Andrea Ghezzi3, Elisabetta Zucchi1, Giulia Gianferrari3, Cecilia Simonini1, Francesco Cavallieri4, Franco Valzania4   

  1. 1Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy; 2Clinical and Experimental Medicine Ph.D. Program, University of Modena and Reggio Emilia, Modena, Italy; 3Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; 4Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
  • Online:2025-01-15 Published:2025-01-15
  • Contact: Jessica Mandrioli, MD, jessica.mandrioli@unimore.it.

摘要: https://orcid.org/0000-0002-9244-9782 (Jessica Mandrioli) 

Abstract: Amyotrophic lateral sclerosis (ALS) is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex, brainstem, and spinal cord. While the typical clinical phenotype of ALS involves both upper and lower motor neurons, human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions, expanding the phenotype of ALS. Although superoxide dismutase 1 (SOD1) mutations represent a minority of ALS cases, the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies. Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1 (SOD1-ALS), no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation. In this narrative review, we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS. The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms, pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.

Key words: amyotrophic lateral sclerosis (ALS), autonomic, extramotor, genotype-phenotype, multisystem involvement, Parkinson’s disease, sensory, SOD1, superoxide dismutase 1, urinary, vocal cord palsy