No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

C. Bertolin, G. Querin, E. Da Re, A. Sagnelli, L. Bello, M. Cao, M. Muscas, M. Pennuto, M. Ermani, E. Pegoraro, C. Mariotti, C. Gellera, M. G. Hanna, D. Pareyson, P. Fratta, G. Sorarù

Research output: Contribution to journalArticlepeer-review


Background and purpose: 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. Methods: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. Results: 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). Conclusions: The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.

Original languageEnglish
Pages (from-to)1134-1136
Number of pages3
JournalEuropean Journal of Neurology
Issue number6
Publication statusPublished - Jun 1 2016


  • Genotype
  • Phenotype
  • PolyG
  • PolyQ
  • Spinal and bulbar muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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