No Effect of AR PolyG Polymorphism on Spinal and Bulbar Muscular Atrophy Phenotype

Overview

Journal Eur J Neurol

Publisher Wiley

Specialty Neurology

Date 2016 May 5

PMID 27141859

Citations 4

Authors

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 Soraru

Affiliations

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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.

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Giorgia Q, Irene B, Laura M, Ilaria M, Cinzia B, Elena P Neurol Sci. 2019; 40(7):1393-1401.

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