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

A. Bruson, 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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1373-1375
Number of pages3
JournalEuropean Journal of Neurology
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2012

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Keywords

  • Amyotrophic lateral sclerosis
  • Androgen receptor
  • CAG repeat
  • Polyglutamine

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Bruson, A., Sambataro, F., Querin, G., D'Ascenzo, C., Palmieri, A., Agostini, J., Gaiani, A., Angelini, C., Galbiati, M., Poletti, A., Pennuto, M., Pegoraro, E., Clementi, M., & Soraru, G. (2012). CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis. European Journal of Neurology, 19(10), 1373-1375. https://doi.org/10.1111/j.1468-1331.2011.03646.x