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EnglishBackground: 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.
CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis / 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. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1351-5101. - 19:10(2012), pp. 1373-1375.
| Titolo: | CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis |
| Autori: | |
| Data di pubblicazione: | 2012 |
| Rivista: | |
| Citazione: | CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis / 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. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1351-5101. - 19:10(2012), pp. 1373-1375. |
| 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. |
| Handle: | http://hdl.handle.net/11390/1071976 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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