title: Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
abstract: BACKGROUND
  A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course.
  
  
  METHODS
  Four members of an African American family with autosomal dominant ALS were evaluated clinically over 12 years. Mutation analysis of SOD1 was done on 1 patient.
  
  
  RESULTS
  All patients had a pure lower motor neuron syndrome with onset to death in 9-15 months. A Gly41Ser mutation in SOD1 was established. In silico modeling suggested that this mutation can have a more deleterious effect than a Gly41Asp mutation.
  
  
  CONCLUSIONS
  The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group.
authors.affiliation: Department of Neurology, University of Florida College of Medicine and McKnight Brain Institute, Gainesville, Florida 32610, USA. s.subramony@neurology.ufl.edu
authors.forename: S H
authors.initials: SH
authors.lastname: Subramony
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.forename: Leigh
authors.initials: L
authors.lastname: Langford
authors.forename: Robert
authors.initials: R
authors.lastname: McKenna
authors.forename: Balu
authors.initials: B
authors.lastname: Avvaru
authors.forename: Teepu
authors.initials: T
authors.lastname: Siddique
authors.forename: V
authors.initials: V
authors.lastname: Vedanarayanan
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D010641:Phenotype; D012694:Serine / Q000235:genetics*; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D012694:Serine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D005998:Glycine