Genetics of amyotrophic lateral sclerosis.

P Corcia, P Couratier, H Blasco, C R Andres, S Beltran, V Meininger, P Vourc'h
Author Information
  1. P Corcia: Centre de Ressources et de Compétences SLA, CHU Tours, 4 boulevard Tonnellé, 37000 Tours, France; Inserm Unit UMR U930, 37000 Tours, France; Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France.
  2. P Couratier: Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France; Centre de Ressources et de Compétences SLA, CHU Limoges, 2, Avenue Martin Luther King, 87000 Limoges, France.
  3. H Blasco: Inserm Unit UMR U930, 37000 Tours, France; Service de Biochimie-Biologie Moléculaire, CHRU Tours, 4 boulevard Tonnellé, 37000 Tours, France.
  4. C R Andres: Inserm Unit UMR U930, 37000 Tours, France; Service de Biochimie-Biologie Moléculaire, CHRU Tours, 4 boulevard Tonnellé, 37000 Tours, France.
  5. S Beltran: Centre de Ressources et de Compétences SLA, CHU Tours, 4 boulevard Tonnellé, 37000 Tours, France; Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France. Electronic address: s.beltran@chu-tours.fr.
  6. V Meininger: Centre de Ressources et de Compétences SLA, CHU Tours, 4 boulevard Tonnellé, 37000 Tours, France; Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France.
  7. P Vourc'h: Inserm Unit UMR U930, 37000 Tours, France; Service de Biochimie-Biologie Moléculaire, CHRU Tours, 4 boulevard Tonnellé, 37000 Tours, France.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors.

Keywords

MeSH Term

Amyotrophic Lateral Sclerosis
C9orf72 Protein
Humans
Superoxide Dismutase-1

Chemicals

C9orf72 Protein
C9orf72 protein, human
SOD1 protein, human
Superoxide Dismutase-1

Word Cloud

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