title: Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity.
abstract: BACKGROUND
  Juvenile focal amyotrophy of the arm is an unusual focal motor neuron disease that is rarely familial. Its pathogenesis is unknown. We recently described a family with amyotrophic lateral sclerosis associated with a mutation in the superoxide dismutase 1 (SOD1) gene substituting an aspartate for an alanine (D9OA). One of the carriers of this mutation had focal and nonprogressive amyotrophy of the arm, suggesting that focal amyotrophy might be associated with SOD1 mutations.
  
  
  OBJECTIVE
  To describe the phenotype of 2 brothers with juvenile focal amyotrophy of the upper extremity and to characterize their SOD1 genotype and SOD activity.
  
  
  METHODS
  Polymerase chain reaction and sequencing of the SOD1 gene and colorimetric measurement of the enzyme activity.
  
  
  RESULTS
  We compared the phenotype of our patients to that of 375 patients described in the Western literature. The 5 exons of the SOD1 gene were normal, as was the SOD activity in red blood cells.
authors.affiliation: Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: W
authors.initials: W
authors.lastname: Robberecht
authors.forename: T
authors.initials: T
authors.lastname: Aguirre
authors.forename: L
authors.initials: L
authors.lastname: Van den Bosch
authors.forename: P
authors.initials: P
authors.lastname: Theys
authors.forename: H
authors.initials: H
authors.lastname: Nees
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D000328:Adult; D001132:Arm; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase