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. 2012 Oct;19(10):1373-5.
doi: 10.1111/j.1468-1331.2011.03646.x. Epub 2012 Jan 10.

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

A Bruson  1 , F Sambataro, G Querin, C D'Ascenzo, A Palmieri, J Agostini, A Gaiani, C Angelini, M Galbiati, A Poletti, M Pennuto, E Pegoraro, M Clementi, G Soraru
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CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

A Bruson et al. Eur J Neurol. 2012 Oct.

Abstract

Background: Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA).

Purpose and methods: We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls.

Results: We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival.

Conclusions: Our findings do not support a role of the AR CAG repeat length in ALS.

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