No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
Eur J Neurol
; 23(6): 1134-6, 2016 06.
Article
em En
| MEDLINE
| ID: mdl-27141859
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Receptores Androgênicos
/
Polimorfismo de Nucleotídeo Único
Limite:
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article