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CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
Author(s) -
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.
Publication year - 2012
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2011.03646.x
Subject(s) - amyotrophic lateral sclerosis , androgen receptor , spinal and bulbar muscular atrophy , medicine , trinucleotide repeat expansion , progressive muscular atrophy , atrophy , gene , endocrinology , genetics , biology , disease , allele , cancer , prostate cancer
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.