title: Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
abstract: BACKGROUND
  Mutations in the ALS2 gene cause juvenile-onset autosomal recessive amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia.
  
  
  OBJECTIVE
  To assess the role of ALS2 among more common forms of ALS.
  
  
  METHODS
  DNA from 95 unrelated familial, 95 unrelated sporadic, and 11 early-onset ALS patients was screened for mutations in ALS2 by denaturing high-performance liquid chromatography and direct sequencing of polymerase chain reaction-amplified fragments. Each variant identified was also analyzed among control subjects. All 34 exons of ALS2 plus the 5' and 3' untranslated region were screened.
  
  
  RESULTS
  We detected 23 novel sequence variants; however, none is disease-associated.
  
  
  CONCLUSIONS
  Mutations of ALS2 are not a common cause of ALS.
authors.affiliation: Centre for Research in Neuroscience, McGill University, and Montréal General Hospital Research Institute, Montréal, Quebec, Canada.
authors.forename: Collette K
authors.initials: CK
authors.lastname: Hand
authors.forename: Rebecca S
authors.initials: RS
authors.lastname: Devon
authors.forename: Francois
authors.initials: F
authors.lastname: Gros-Louis
authors.forename: Daniel
authors.initials: D
authors.lastname: Rochefort
authors.forename: Jawad
authors.initials: J
authors.lastname: Khoris
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Michael R
authors.initials: MR
authors.lastname: Hayden
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors