CINECA IRIS Institutional Research Information System
IRIS è la piattaforma adottata dall’Università degli Studi di Udine per gestire l’archivio aperto dei prodotti della ricerca. L’archivio contiene articoli, contributi in volume, monografie, interventi pubblicati in atti di convegno, Tesi di dottorato e altri materiali.
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 |
File in questo prodotto:
http://hdl.handle.net/11390/1071976
Copyright © 2021