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.
- Spinal and bulbar muscular atrophy
ASJC Scopus subject areas
- Clinical Neurology