Amyotrophic lateral sclerosis

Adv Exp Med Biol. 2010:685:9-20. doi: 10.1007/978-1-4419-6448-9_2.

Abstract

Amyotrophic lateral sclerosis (ALS) is a common neurological disorder that results in loss of motor neurons, leading to a rapidly progressive form of muscle paralysis that is fatal. There is no available cure and current therapies only provide minimal benefit at best. The disease is predominantly sporadic and until very recently only the Cu,Zn superoxide dismutase (Cu,ZnSOD), which is involved in a small number of sporadic cases and a larger component of familial ones, have been analyzed in any detail. Here we describe the clinical aspects of ALS and highlight the genetics and molecular mechanisms behind the disease. We discuss the current understanding and controversies of how mutations in Cu,ZnSOD may cause the disease. We also focus on the recent discovery that mutations in either TDP-43 or FUS/TLS, which are both involved in DNA/RNA synthesis, are likely the cause behind many cases of ALS that are not linked to Cu,ZnSOD.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis* / genetics
  • Amyotrophic Lateral Sclerosis* / metabolism
  • Animals
  • DNA / biosynthesis
  • DNA / genetics
  • DNA-Binding Proteins* / genetics
  • DNA-Binding Proteins* / metabolism
  • Humans
  • Mutation*
  • RNA / biosynthesis
  • RNA / genetics
  • RNA-Binding Protein FUS* / genetics
  • RNA-Binding Protein FUS* / metabolism
  • Superoxide Dismutase* / genetics
  • Superoxide Dismutase* / metabolism

Substances

  • DNA-Binding Proteins
  • RNA-Binding Protein FUS
  • RNA
  • DNA
  • Superoxide Dismutase