中国神经再生研究(英文版) ›› 2023, Vol. 18 ›› Issue (7): 1427-1433.doi: 10.4103/1673-5374.361535

• 综述:退行性病与再生 • 上一篇    下一篇

超氧化物歧化酶1-肌萎缩侧索硬化症的认知障碍

  

  • 出版日期:2023-07-15 发布日期:2023-01-11

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis

Ilaria Martinelli1, 2, *, Elisabetta Zucchi2, 3, Cecilia Simonini2, Giulia Gianferrari3, Giovanna Zamboni2, 3, Marcello Pinti4, #br# Jessica Mandrioli2, 3 #br#   

  1. 1Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy; 2Department of Neurosciences, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy; 3Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; 4Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy 
  • Online:2023-07-15 Published:2023-01-11
  • Contact: Ilaria Martinelli, MD, PhD candidate, martinelli.ilaria88@gmail.com.

摘要: https://orcid.org/0000-0003-2566-3671 (Ilaria Martinelli) 

Abstract: Although mutations in the superoxide dismutase 1 gene account for only a minority of total amyotrophic lateral sclerosis cases, the discovery of this gene has been crucial for amyotrophic lateral sclerosis research. Since the identification of superoxide dismutase 1 in 1993, the field of amyotrophic lateral sclerosis genetics has considerably widened, improving our understanding of the diverse pathogenic basis of amyotrophic lateral sclerosis. In this review, we focus on cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis patients. Literature has mostly reported that cognition remains intact in superoxide dismutase 1-amyotrophic lateral sclerosis patients, but recent reports highlight frontal lobe function frailty in patients carrying different superoxide dismutase 1-amyotrophic lateral sclerosis mutations. We thoroughly reviewed all the various mutations reported in the literature to contribute to a comprehensive database of superoxide dismutase 1-amyotrophic lateral sclerosis genotype-phenotype correlation. Such a resource could ultimately improve our mechanistic understanding of amyotrophic lateral sclerosis, enabling a more robust assessment of how the amyotrophic lateral sclerosis phenotype responds to different variants across genes, which is important for the therapeutic strategy targeting genetic mutations. Cognition in superoxide dismutase 1-amyotrophic lateral sclerosis deserves further longitudinal research since this peculiar frailty in patients with similar mutations can be conditioned by external factors, including environment and other unidentified agents including modifier genes. 

Key words: amyotrophic lateral sclerosis, cognitive impairment, genotype-phenotype correlation, superoxide dismutase 1