中国神经再生研究(英文版) ›› 2019, Vol. 14 ›› Issue (2): 193-196.doi: 10.4103/1673-5374.244783

• 综述:退行性病与再生 • 上一篇    下一篇

肌萎缩侧索硬化:复杂综合征需要综合研究方法

  

  • 出版日期:2019-02-15 发布日期:2019-02-15

Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach

Javier Riancho 1, 2 , Francisco J. Gil-Bea 2, 3 , Ana Santurtun 4 , Adolfo López de Munaín 2, 3, 5, 6   

  1. 1 Service of Neurology, Hospital Sierrallana-Idival, Torrelavega, Spain
    2 CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), Madrid, Spain
    3 Neurosciences Area, Institute Biodonostia, San Sebastián, Spain
    4 Department of Physiology and Pharmacology, University of Cantabria-Idival, Santander, Spain
    5 Department of Neurology, University Hospital Donostia, San Sebastián, Spain
    6 Department of Neurosciences, University of the Basque Country, Universidad País Vasco-Euskal Herria Unibertsitatea, San Sebastián, Spain
  • Online:2019-02-15 Published:2019-02-15
  • Contact: Javier Riancho, MD, PhD, rianchozj@unican.es, javier.riancho86@gmail.com.

摘要:

orcid:0000-0001-7929-1055(Javier Riancho)

Abstract:

Amyotrophic lateral sclerosis, the most common neurodegenerative disease affecting motor neurons, lacks an effective treatment. A small fraction of amyotrophic lateral sclerosis cases have a familial origin, related to mutations in causative genes, while the vast majority of amyotrophic lateral sclerosis cases are considered to be sporadic, resulting from the interaction between genes and environmental factors in predisposed individuals. During the past few years, dozens of drugs have been postulated as promising strategies for the disease after showing some beneficial effects in preclinical cellular and murine models. However, the translation into clinical practice has been largely unsuccessful and the compounds failed when were tested in clinical trials. This might be explained, at least partially, by the enormous complexity of the disease both from clinico-epidemiological and a pathogenic points of view. In this review, we will briefly comment on the complexity of the disease focusing on some recent findings, and we will suggest how amyotrophic lateral sclerosis research might be reoriented to foster the advance in the diagnostic and therapeutic questions.

Key words: amyotrophic lateral sclerosis, ALS, environment, epidemiology, genes, phenotype, research, therapy