title: A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.
abstract: BACKGROUND
  Details of the mutations in the Cu/Zn superoxide dismutase (SOD1) gene in patients with the familial form of amyotrophic lateral sclerosis are currently being gathered in order better to understand the genotype-phenotype relationship in this disorder. We report on a large family with 15 affected individuals spanning five generations.
  
  
  RESULTS
  A novel mutation in the exon 3 of the SOD1 gene, an A-to-T transversion at nucleotide position 696 in the heterozygous state leading to a D76V amino acid change, was identified in four family members. Affected individuals showed a homogeneous phenotype, characterized by initial symptoms in the lower limbs, clinical onset in the fifth decade of life, long survival and high penetrance.
  
  
  CONCLUSIONS
  Our results are discussed in relation to the previously reported exon 3 SOD1 mutations, paying particular attention to the phenotypic characteristics of ALS-SOD1 patients.
authors.affiliation: Centre d'Investigacions en Bioquímica i Biologia Molecular, Hospital Gral, Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Toni
authors.initials: T
authors.lastname: Segovia-Silvestre
authors.forename: Antonio L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Cristofol
authors.initials: C
authors.lastname: Vives-Bauza
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia-Arumi
authors.forename: Carlos
authors.initials: C
authors.lastname: Cervera
authors.forename: Josep
authors.initials: J
authors.lastname: Gamez
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D013030:Spain / Q000208:ethnology; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase