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- W2514372783 abstract "Background: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease (KD), is a lower motor neuron disorder, caused by expansion over 36 of a polymorphic CAG repeat sequence encoding a polyglutamine tract (polyQ), in the androgen steroid hormone receptor (AR) gene on chromosome X. PolyQ tract length negatively correlates with age at onset, without affecting disease progression. Objective: To assess the role of AR variants on disease phenotype. Patients and methods: A cohort of 159 SBMA patients were genotyped for AR variants and a genotype-phenotype correlation study was performed. Results: Besides the pathogenetic polyQ tract, the only AR variant to result polymorphic (minor allele frequency > 5%) was a polyglycine tract (polyG) encoded by GGN spanning amino-acids 451–473. We confirmed an inverse correlation between the polyQ length and the age at onset of muscle weakness (r = -0.49; p < 0.0001, Fig. 1). No correlation between GGN length and milestones of disease progression was found. The number of CAG repeats could explain approximately 25% variance of age at onset of muscle weakness and GGN length was not significantly correlated (p = 0.28) in a multiple regression analysis. Conclusions: AR polyG tract is not a genetic modifier of SBMA phenotype." @default.
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- W2514372783 date "2015-10-01" @default.
- W2514372783 modified "2023-10-15" @default.
- W2514372783 title "The role of androgen receptor gene variants on SBMA phenotype" @default.
- W2514372783 doi "https://doi.org/10.1016/j.jns.2015.08.794" @default.
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