ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Giuseppe Borghero; Maura Pugliatti; Francesco Marrosu; Maria Giovanna Marrosu; Maria Rita Murru; Gianluca Floris; Antonino Cannas; Leslie D. Parish; Tea B. Cau; Daniela Loi; Anna Ticca; Sebastiano Traccis; Umberto Manera; Antonio Canosa; Cristina Moglia; Andrea Calvo; Marco Barberis; Maura Brunetti; Alan E. Renton; Mike A. Nalls; Bryan J. Traynor; Gabriella Restagno; Adriano Chiò; Francesco O. Logullo; Isabella Simone; Giancarlo Logroscino; Fabrizio Salvi; Ilaria Bartolomei; Margherita Capasso; Claudia Caponnetto; Gianluigi Mancardi; Paola Mandich; Paola Origone; Francesca L. Conforti; Gabriele Mora; Kalliopi Marinou; Riccardo Sideri; Christian Lunetta; Silvana Penco; Lorena Mosca; Riva Nilo; Giuseppe Lauria Pinter; Massimo Corbo; Paolo Volanti; Jessica Mandrioli; Nicola Fini; Eleni Georgoulopoulou; Lucio Tremolizzo; Rosaria Monsurrò Maria Rosaria Monsurrò; Gioacchino Tedeschi; the ITALSGEN and SARDINALS consortia

doi:10.1016/j.neurobiolaging.2015.06.013

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Leslie D. Parish, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E. Renton, Mike A. NallsBryan J. Traynor, Gabriella Restagno, Adriano Chiò, Francesco O. Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Paola Origone, Francesca L. Conforti, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Riva Nilo, Giuseppe Lauria Pinter, Massimo Corbo, Paolo Volanti, Jessica Mandrioli, Nicola Fini, Eleni Georgoulopoulou, Lucio Tremolizzo, Rosaria Monsurrò Maria Rosaria Monsurrò, Gioacchino Tedeschi, the ITALSGEN and SARDINALS consortia

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with

Original language	English
Pages (from-to)	2906.e1-2906.e5
Journal	Neurobiology of Aging
Volume	36
Issue number	10
DOIs	https://doi.org/10.1016/j.neurobiolaging.2015.06.013
Publication status	Published - Oct 1 2015

Keywords

Amyotrophic lateral sclerosis
Ataxin 2 gene
Genetic modifier

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)
Ageing
Developmental Biology
Geriatrics and Gerontology

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Borghero, G., Pugliatti, M., Marrosu, F., Marrosu, M. G., Murru, M. R., Floris, G., Cannas, A., Parish, L. D., Cau, T. B., Loi, D., Ticca, A., Traccis, S., Manera, U., Canosa, A., Moglia, C., Calvo, A., Barberis, M., Brunetti, M., Renton, A. E., ... the ITALSGEN and SARDINALS consortia (2015). ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. Neurobiology of Aging, 36(10), 2906.e1-2906.e5. https://doi.org/10.1016/j.neurobiolaging.2015.06.013

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. / Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Parish, Leslie D.; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Renton, Alan E.; Nalls, Mike A.; Traynor, Bryan J.; Restagno, Gabriella; Chiò, Adriano; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Mandich, Paola; Origone, Paola; Conforti, Francesca L.; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Lunetta, Christian; Penco, Silvana; Mosca, Lorena; Nilo, Riva; Pinter, Giuseppe Lauria; Corbo, Massimo; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Georgoulopoulou, Eleni; Tremolizzo, Lucio; Maria Rosaria Monsurrò, Rosaria Monsurrò; Tedeschi, Gioacchino; the ITALSGEN and SARDINALS consortia.

In: Neurobiology of Aging, Vol. 36, No. 10, 01.10.2015, p. 2906.e1-2906.e5.

Research output: Contribution to journal › Article › peer-review

Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, MG, Murru, MR, Floris, G, Cannas, A, Parish, LD, Cau, TB, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Renton, AE, Nalls, MA, Traynor, BJ, Restagno, G, Chiò, A, Logullo, FO, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mancardi, G, Mandich, P, Origone, P, Conforti, FL, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Nilo, R, Pinter, GL, Corbo, M, Volanti, P, Mandrioli, J, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Maria Rosaria Monsurrò, RM, Tedeschi, G & the ITALSGEN and SARDINALS consortia 2015, 'ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry', Neurobiology of Aging, vol. 36, no. 10, pp. 2906.e1-2906.e5. https://doi.org/10.1016/j.neurobiolaging.2015.06.013

Borghero, Giuseppe ; Pugliatti, Maura ; Marrosu, Francesco ; Marrosu, Maria Giovanna ; Murru, Maria Rita ; Floris, Gianluca ; Cannas, Antonino ; Parish, Leslie D. ; Cau, Tea B. ; Loi, Daniela ; Ticca, Anna ; Traccis, Sebastiano ; Manera, Umberto ; Canosa, Antonio ; Moglia, Cristina ; Calvo, Andrea ; Barberis, Marco ; Brunetti, Maura ; Renton, Alan E. ; Nalls, Mike A. ; Traynor, Bryan J. ; Restagno, Gabriella ; Chiò, Adriano ; Logullo, Francesco O. ; Simone, Isabella ; Logroscino, Giancarlo ; Salvi, Fabrizio ; Bartolomei, Ilaria ; Capasso, Margherita ; Caponnetto, Claudia ; Mancardi, Gianluigi ; Mandich, Paola ; Origone, Paola ; Conforti, Francesca L. ; Mora, Gabriele ; Marinou, Kalliopi ; Sideri, Riccardo ; Lunetta, Christian ; Penco, Silvana ; Mosca, Lorena ; Nilo, Riva ; Pinter, Giuseppe Lauria ; Corbo, Massimo ; Volanti, Paolo ; Mandrioli, Jessica ; Fini, Nicola ; Georgoulopoulou, Eleni ; Tremolizzo, Lucio ; Maria Rosaria Monsurrò, Rosaria Monsurrò ; Tedeschi, Gioacchino ; the ITALSGEN and SARDINALS consortia. / ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. In: Neurobiology of Aging. 2015 ; Vol. 36, No. 10. pp. 2906.e1-2906.e5.

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abstract = "Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with ",

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author = "Giuseppe Borghero and Maura Pugliatti and Francesco Marrosu and Marrosu, {Maria Giovanna} and Murru, {Maria Rita} and Gianluca Floris and Antonino Cannas and Parish, {Leslie D.} and Cau, {Tea B.} and Daniela Loi and Anna Ticca and Sebastiano Traccis and Umberto Manera and Antonio Canosa and Cristina Moglia and Andrea Calvo and Marco Barberis and Maura Brunetti and Renton, {Alan E.} and Nalls, {Mike A.} and Traynor, {Bryan J.} and Gabriella Restagno and Adriano Chi{\`o} and Logullo, {Francesco O.} and Isabella Simone and Giancarlo Logroscino and Fabrizio Salvi and Ilaria Bartolomei and Margherita Capasso and Claudia Caponnetto and Gianluigi Mancardi and Paola Mandich and Paola Origone and Conforti, {Francesca L.} and Gabriele Mora and Kalliopi Marinou and Riccardo Sideri and Christian Lunetta and Silvana Penco and Lorena Mosca and Riva Nilo and Pinter, {Giuseppe Lauria} and Massimo Corbo and Paolo Volanti and Jessica Mandrioli and Nicola Fini and Eleni Georgoulopoulou and Lucio Tremolizzo and {Maria Rosaria Monsurr{\`o}}, {Rosaria Monsurr{\`o}} and Gioacchino Tedeschi and {the ITALSGEN and SARDINALS consortia}",

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AU - Floris, Gianluca

AU - Cannas, Antonino

AU - Parish, Leslie D.

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AU - Loi, Daniela

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