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

Mario Sabatelli; Marcella Zollino; Giuseppe Marangi; Amelia Conte; Marco Luigetti; Serena Lattante; 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; null Maria Rosaria Monsurrò; Gioacchino Tedeschi; Viviana Cristillo; Vincenzo La Bella; Rossella Spataro; Tiziana Colletti; Marialuisa Santarelli; Antonio Petrucci; Fabio Giannini; Stefania Battistini; Claudia Ricci; Federico Casale; Giuseppe Marrali; Giuseppe Fuda; Irene Ossola; Stefania Cammarosano; Antonio Ilardi; Davide Bertuzzo; Raffaella Tanel; Fabrizio Pisano; Emanuela Costantino; Carla Pani; Roberta Puddu; Carla Caredda; Valeria Piras; Stefania Tranquilli; Stefania Cuccu; Daniela Corongiu; Maurizio Melis; Antonio Milia; Angelo Pirisi; Patrizia Occhineri; Enzo Ortu

doi:10.1016/j.neurobiolaging.2015.06.013

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

Mario Sabatelli, Marcella Zollino, Giuseppe Marangi, Amelia Conte, Marco Luigetti, Serena Lattante, 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 CanosaCristina 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, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Viviana Cristillo, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Angelo Pirisi, Patrizia Occhineri, Enzo Ortu

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

7 Citazioni (Scopus)

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 <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.

Lingua originale	English
pagine (da-a)	2906.e1-2906.e1-5
Rivista	Neurobiology of Aging
Volume	36
DOI	https://doi.org/10.1016/j.neurobiolaging.2015.06.013
Stato di pubblicazione	Pubblicato - 2015

Keywords

Amyotrophic lateral sclerosis
Ataxin 2 gene
Genetic modifier

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10.1016/j.neurobiolaging.2015.06.013

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Sabatelli, M., Zollino, M., Marangi, G., Conte, A., Luigetti, M., Lattante, S., 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., ... Ortu, E. (2015). ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. Neurobiology of Aging, 36, 2906.e1-2906.e1-5. https://doi.org/10.1016/j.neurobiolaging.2015.06.013

Sabatelli, Mario ; Zollino, Marcella ; Marangi, Giuseppe ; Conte, Amelia ; Luigetti, Marco ; Lattante, Serena ; 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 ; Tedeschi, Gioacchino ; Cristillo, Viviana ; La Bella, Vincenzo ; Spataro, Rossella ; Colletti, Tiziana ; Santarelli, Marialuisa ; Petrucci, Antonio ; Giannini, Fabio ; Battistini, Stefania ; Ricci, Claudia ; Casale, Federico ; Marrali, Giuseppe ; Fuda, Giuseppe ; Ossola, Irene ; Cammarosano, Stefania ; Ilardi, Antonio ; Bertuzzo, Davide ; Tanel, Raffaella ; Pisano, Fabrizio ; Costantino, Emanuela ; Pani, Carla ; Puddu, Roberta ; Caredda, Carla ; Piras, Valeria ; Tranquilli, Stefania ; Cuccu, Stefania ; Corongiu, Daniela ; Melis, Maurizio ; Milia, Antonio ; Pirisi, Angelo ; Occhineri, Patrizia ; Ortu, Enzo. / ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. In: Neurobiology of Aging. 2015 ; Vol. 36. pagg. 2906.e1-2906.e1-5.

@article{9b116281e81e4106a214562fe6f660c5,

title = "ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry",

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 <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.",

keywords = "Amyotrophic lateral sclerosis, Ataxin 2 gene, Genetic modifier, Amyotrophic lateral sclerosis, Ataxin 2 gene, Genetic modifier",

author = "Mario Sabatelli and Marcella Zollino and Giuseppe Marangi and Amelia Conte and Marco Luigetti and Serena Lattante and 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}} and Gioacchino Tedeschi and Viviana Cristillo and {La Bella}, Vincenzo and Rossella Spataro and Tiziana Colletti and Marialuisa Santarelli and Antonio Petrucci and Fabio Giannini and Stefania Battistini and Claudia Ricci and Federico Casale and Giuseppe Marrali and Giuseppe Fuda and Irene Ossola and Stefania Cammarosano and Antonio Ilardi and Davide Bertuzzo and Raffaella Tanel and Fabrizio Pisano and Emanuela Costantino and Carla Pani and Roberta Puddu and Carla Caredda and Valeria Piras and Stefania Tranquilli and Stefania Cuccu and Daniela Corongiu and Maurizio Melis and Antonio Milia and Angelo Pirisi and Patrizia Occhineri and Enzo Ortu",

year = "2015",

doi = "10.1016/j.neurobiolaging.2015.06.013",

language = "English",

volume = "36",

pages = "2906.e1--2906.e1--5",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "[New York, NY] : Elsevier, 1980-",

}

Sabatelli, M , Zollino, M , Marangi, G, Conte, A, Luigetti, M, Lattante, S, 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, Tedeschi, G, Cristillo, V, La Bella, V, Spataro, R, Colletti, T, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Occhineri, P & Ortu, E 2015, 'ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry', Neurobiology of Aging, vol. 36, pagg. 2906.e1-2906.e1-5. https://doi.org/10.1016/j.neurobiolaging.2015.06.013

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. / Sabatelli, Mario ; Zollino, Marcella ; Marangi, Giuseppe; Conte, Amelia; Luigetti, Marco; Lattante, Serena; 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; Tedeschi, Gioacchino; Cristillo, Viviana; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Santarelli, Marialuisa; Petrucci, Antonio; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Tanel, Raffaella; Pisano, Fabrizio; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Pirisi, Angelo; Occhineri, Patrizia; Ortu, Enzo.

In: Neurobiology of Aging, Vol. 36, 2015, pag. 2906.e1-2906.e1-5.

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

TY - JOUR

T1 - ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

AU - Sabatelli, Mario

AU - Zollino, Marcella

AU - Marangi, Giuseppe

AU - Conte, Amelia

AU - Luigetti, Marco

AU - Lattante, Serena

AU - Borghero, Giuseppe

AU - Pugliatti, Maura

AU - Marrosu, Francesco

AU - Marrosu, Maria Giovanna

AU - Murru, Maria Rita

AU - Floris, Gianluca

AU - Cannas, Antonino

AU - Parish, Leslie D.

AU - Cau, Tea B.

AU - Loi, Daniela

AU - Ticca, Anna

AU - Traccis, Sebastiano

AU - Manera, Umberto

AU - Canosa, Antonio

AU - Moglia, Cristina

AU - Calvo, Andrea

AU - Barberis, Marco

AU - Brunetti, Maura

AU - Renton, Alan E.

AU - Nalls, Mike A.

AU - Traynor, Bryan J.

AU - Restagno, Gabriella

AU - Chiò, Adriano

AU - Logullo, Francesco O.

AU - Simone, Isabella

AU - Logroscino, Giancarlo

AU - Salvi, Fabrizio

AU - Bartolomei, Ilaria

AU - Capasso, Margherita

AU - Caponnetto, Claudia

AU - Mancardi, Gianluigi

AU - Mandich, Paola

AU - Origone, Paola

AU - Conforti, Francesca L.

AU - Mora, Gabriele

AU - Marinou, Kalliopi

AU - Sideri, Riccardo

AU - Lunetta, Christian

AU - Penco, Silvana

AU - Mosca, Lorena

AU - Nilo, Riva

AU - Pinter, Giuseppe Lauria

AU - Corbo, Massimo

AU - Volanti, Paolo

AU - Mandrioli, Jessica

AU - Fini, Nicola

AU - Georgoulopoulou, Eleni

AU - Tremolizzo, Lucio

AU - Maria Rosaria Monsurrò, null

AU - Tedeschi, Gioacchino

AU - Cristillo, Viviana

AU - La Bella, Vincenzo

AU - Spataro, Rossella

AU - Colletti, Tiziana

AU - Santarelli, Marialuisa

AU - Petrucci, Antonio

AU - Giannini, Fabio

AU - Battistini, Stefania

AU - Ricci, Claudia

AU - Casale, Federico

AU - Marrali, Giuseppe

AU - Fuda, Giuseppe

AU - Ossola, Irene

AU - Cammarosano, Stefania

AU - Ilardi, Antonio

AU - Bertuzzo, Davide

AU - Tanel, Raffaella

AU - Pisano, Fabrizio

AU - Costantino, Emanuela

AU - Pani, Carla

AU - Puddu, Roberta

AU - Caredda, Carla

AU - Piras, Valeria

AU - Tranquilli, Stefania

AU - Cuccu, Stefania

AU - Corongiu, Daniela

AU - Melis, Maurizio

AU - Milia, Antonio

AU - Pirisi, Angelo

AU - Occhineri, Patrizia

AU - Ortu, Enzo

PY - 2015

Y1 - 2015

N2 - 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 <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.

AB - 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 <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.

KW - Amyotrophic lateral sclerosis

KW - Ataxin 2 gene

KW - Genetic modifier

KW - Amyotrophic lateral sclerosis

KW - Ataxin 2 gene

KW - Genetic modifier

UR - http://hdl.handle.net/10807/71787

U2 - 10.1016/j.neurobiolaging.2015.06.013

DO - 10.1016/j.neurobiolaging.2015.06.013

M3 - Article

VL - 36

SP - 2906.e1-2906.e1-5

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

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

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