Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?
Ilaria Martinelli1
Jessica Mandrioli2
Andrea Ghezzi3
Elisabetta Zucchi4
Giulia Gianferrari3
Cecilia Simonini4
Francesco Cavallieri5
Franco Valzania5
1.Department of Neurosciences,Azienda Ospedaliero Universitaria di Modena,Modena,Italy;Clinical and Experimental Medicine Ph.D.Program,University of Modena and Reggio Emilia,Modena,Italy2.Department of Neurosciences,Azienda Ospedaliero Universitaria di Modena,Modena,Italy;Department of Biomedical,Metabolic and Neural Sciences,University of Modena and Reggio Emilia,Modena,Italy3.Department of Biomedical,Metabolic and Neural Sciences,University of Modena and Reggio Emilia,Modena,Italy4.Department of Neurosciences,Azienda Ospedaliero Universitaria di Modena,Modena,Italy5.Neurology Unit,Neuromotor & Rehabilitation Department,Azienda USL-IRCCS di Reggio Emilia,Reggio Emilia,Italy
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.
机标关键词：expressiondismutaserareamyotrophiclateralmultifacetedoccurrencepatients
论文发表日期：2025-01-27
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：9( 130-138 )
英文信息