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- Title
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
- Authors
Bertolin, C.; Querin, G.; Da Re, E.; Sagnelli, A.; Bello, L.; Cao, M.; Muscas, M.; Pennuto, M.; Ermani, M.; Pegoraro, E.; Mariotti, C.; Gellera, C.; Hanna, M. G.; Pareyson, D.; Fratta, P.; Sorarù, G.
- Abstract
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.
- Subjects
GENETIC polymorphisms; X-linked bulbo-spinal atrophy; SPINAL muscular atrophy; PHENOTYPES; ANDROGEN receptors
- Publication
European Journal of Neurology, 2016, Vol 23, Issue 6, p1134
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/ene.13001