title: No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
abstract: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype.
  
  
  
  We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients.
  
  
  
  No relationship between polyG size or polyG/polyQ haplotypes and clinical phenotype was found. An independent negative correlation between polyQ-length and onset of weakness was confirmed (P < 0.001).
  
  
  
  The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bertolin
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Querin
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Da Re
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Sagnelli
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bello
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Cao
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Muscas
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Pennuto
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Ermani
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Mariotti
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.affiliation: Dulbecco Telethon Institute Laboratory of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: Dulbecco Telethon Institute Laboratory of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Fratta
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Sorarù
mesh_terms: D000483:Alleles; D006239:Haplotypes; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010455:Peptides / Q000235:genetics; D010641:Phenotype; D011068:Poly G / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: C410798:AR protein, human; D010455:Peptides; D011944:Receptors, Androgen; D011068:Poly G; C097188:polyglutamine
keywords: genotype; phenotype; polyG; polyQ; spinal and bulbar muscular atrophy