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

作　　者：Ilaria Martinelli Jessica Mandrioli Andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania 

机构地区：[1]Department of Neurosciences,Azienda Ospedaliero Universitaria di Modena,Modena,Italy [2]Clinical and Experimental Medicine Ph.D.Program,University of Modena and Reggio Emilia,Modena,Italy [3]Department of Biomedical,Metabolic and Neural Sciences,University of Modena and Reggio Emilia,Modena,Italy [4]Neurology Unit,Neuromotor&Rehabilitation Department,Azienda USL-IRCCS di Reggio Emilia,Reggio Emilia,Italy

出　　处：《Neural Regeneration Research》2025年第1期130-138,共9页中国神经再生研究（英文版）

摘　　要：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.

关 键 词：amyotrophic lateral sclerosis(ALS) AUTONOMIC extramotor GENOTYPE-PHENOTYPE multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 URINARY vocal cord palsy 

分 类 号：R744.8[医药卫生—神经病学与精神病学]