title: [SOD1-N196 mutation in a family with amyotrophic lateral sclerosis].
abstract: BACKGROUND
  N19S mutation is produced by substitution in the 139 position of SOD1 and was described by Mayeux in a patient with amyotrophic lateral sclerosis (ALS). He suggested that it did not have a causal effect as it was found in asymptomatic and sporadic cases. Other authors in later articles did not agree.
  
  
  METHODS
  We describe a family with 4 members with ALS patients and attempt to find the carrier of the N19S mutation of the propositus. Molecular studies were performed on 15 members of the family of a different order.
  
  
  RESULTS
  The ALS cases were found in the maternal line of the propositus. The presence of the mutation was detected in 3 people, the other two were asymptomatic. One of patients with ALS in the family, who died previously, did not have the mutation. Two of the sons of this case and another of the other case did not show it. On the other hand, N19S mutation was only present in paternal branch of the propositus, where there were no cases.
  
  
  CONCLUSIONS
  The described family supports the hypothesis by Mayeux and against that mutation N19S has pathological consequences, since mutation is only in the family line where there are no cases with ALS. In consequence, although the described case is included as a familiar form, it cannot be attributed to the mutation, and its relationship with N19S should be considered as casual.
authors.affiliation: Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España.
authors.forename: A
authors.initials: A
authors.lastname: Vela
authors.forename: L
authors.initials: L
authors.lastname: Galán
authors.forename: C
authors.initials: C
authors.lastname: Valencia
authors.forename: P de la
authors.initials: Pde L
authors.lastname: Torre
authors.forename: M L
authors.initials: ML
authors.lastname: Cuadrado
authors.forename: J
authors.initials: J
authors.lastname: Esteban
authors.forename: A
authors.initials: A
authors.lastname: Guerrero
authors.forename: A
authors.initials: A
authors.lastname: García-Redondo
authors.forename: J
authors.initials: J
authors.lastname: Matías-Guiu
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D004247:DNA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1