title: CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.
abstract: BACKGROUND
  Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA).
  
  
  OBJECTIVE
  We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls.
  
  
  RESULTS
  We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival.
  
  
  CONCLUSIONS
  Our findings do not support a role of the AR CAG repeat length in ALS.
authors.affiliation: Department of Pediatrics, Clinical Genetics Unit, Università di Padova, Padova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Bruson
authors.forename: F
authors.initials: F
authors.lastname: Sambataro
authors.forename: G
authors.initials: G
authors.lastname: Querin
authors.forename: C
authors.initials: C
authors.lastname: D'Ascenzo
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: J
authors.initials: J
authors.lastname: Agostini
authors.forename: A
authors.initials: A
authors.lastname: Gaiani
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: M
authors.initials: M
authors.lastname: Galbiati
authors.forename: A
authors.initials: A
authors.lastname: Poletti
authors.forename: M
authors.initials: M
authors.lastname: Pennuto
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: G
authors.initials: G
authors.lastname: Soraru
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011944:Receptors, Androgen / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen