C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

Mario Sabatelli, Francesca Luisa Conforti, Marcella Zollino, Gabriele Mora, Maria Rosaria Monsurrò, Paolo Volanti, Kalliopi Marinou, Fabrizio Salvi, Massimo Corbo, Fabio Giannini, Stefania Battistini, Silvana Penco, Christian Lunetta, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Simone, Ilaria Bartolomei, Fabrizio Pisano, Gioacchino Tedeschi & 26 others Amelia Conte, Rossella Spataro, Vincenzo La Bella, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Patrizia Sola, Jessica Mandrioli, Alan E. Renton, Elisa Majounie, Yevgeniya Abramzon, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura Pugliatti, Carmelo Rodolico, Consortium ITALSGEN Consortium, Cristina Moglia, Andrea Calvo, Irene Ossola, Maura Brunetti, Bryan J. Traynor, Giuseppe Borghero, Gabriella Restagno, Adriano Chiò

Research output: Contribution to journalArticle

Abstract

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia.

Original languageEnglish
JournalNeurobiology of Aging
Volume33
Issue number8
Publication statusPublished - Aug 2012

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Frontotemporal Dementia
Italy
Amyotrophic Lateral Sclerosis
Population
Sicily
Mutation
Pedigree
Introns
Dementia
Chromosomes
Amyotrophic lateral sclerosis 1

ASJC Scopus subject areas

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

Cite this

Sabatelli, M., Conforti, F. L., Zollino, M., Mora, G., Monsurrò, M. R., Volanti, P., ... Chiò, A. (2012). C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiology of Aging, 33(8).

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. / Sabatelli, Mario; Conforti, Francesca Luisa; Zollino, Marcella; Mora, Gabriele; Monsurrò, Maria Rosaria; Volanti, Paolo; Marinou, Kalliopi; Salvi, Fabrizio; Corbo, Massimo; Giannini, Fabio; Battistini, Stefania; Penco, Silvana; Lunetta, Christian; Quattrone, Aldo; Gambardella, Antonio; Logroscino, Giancarlo; Simone, Isabella; Bartolomei, Ilaria; Pisano, Fabrizio; Tedeschi, Gioacchino; Conte, Amelia; Spataro, Rossella; La Bella, Vincenzo; Caponnetto, Claudia; Mancardi, Gianluigi; Mandich, Paola; Sola, Patrizia; Mandrioli, Jessica; Renton, Alan E.; Majounie, Elisa; Abramzon, Yevgeniya; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Sotgiu, Maria Alessandra; Pugliatti, Maura; Rodolico, Carmelo; ITALSGEN Consortium, Consortium; Moglia, Cristina; Calvo, Andrea; Ossola, Irene; Brunetti, Maura; Traynor, Bryan J.; Borghero, Giuseppe; Restagno, Gabriella; Chiò, Adriano.

In: Neurobiology of Aging, Vol. 33, No. 8, 08.2012.

Research output: Contribution to journalArticle

Sabatelli, M, Conforti, FL, Zollino, M, Mora, G, Monsurrò, MR, Volanti, P, Marinou, K, Salvi, F, Corbo, M, Giannini, F, Battistini, S, Penco, S, Lunetta, C, Quattrone, A, Gambardella, A, Logroscino, G, Simone, I, Bartolomei, I, Pisano, F, Tedeschi, G, Conte, A, Spataro, R, La Bella, V, Caponnetto, C, Mancardi, G, Mandich, P, Sola, P, Mandrioli, J, Renton, AE, Majounie, E, Abramzon, Y, Marrosu, F, Marrosu, MG, Murru, MR, Sotgiu, MA, Pugliatti, M, Rodolico, C, ITALSGEN Consortium, C, Moglia, C, Calvo, A, Ossola, I, Brunetti, M, Traynor, BJ, Borghero, G, Restagno, G & Chiò, A 2012, 'C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.', Neurobiology of Aging, vol. 33, no. 8.
Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P et al. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiology of Aging. 2012 Aug;33(8).
Sabatelli, Mario ; Conforti, Francesca Luisa ; Zollino, Marcella ; Mora, Gabriele ; Monsurrò, Maria Rosaria ; Volanti, Paolo ; Marinou, Kalliopi ; Salvi, Fabrizio ; Corbo, Massimo ; Giannini, Fabio ; Battistini, Stefania ; Penco, Silvana ; Lunetta, Christian ; Quattrone, Aldo ; Gambardella, Antonio ; Logroscino, Giancarlo ; Simone, Isabella ; Bartolomei, Ilaria ; Pisano, Fabrizio ; Tedeschi, Gioacchino ; Conte, Amelia ; Spataro, Rossella ; La Bella, Vincenzo ; Caponnetto, Claudia ; Mancardi, Gianluigi ; Mandich, Paola ; Sola, Patrizia ; Mandrioli, Jessica ; Renton, Alan E. ; Majounie, Elisa ; Abramzon, Yevgeniya ; Marrosu, Francesco ; Marrosu, Maria Giovanna ; Murru, Maria Rita ; Sotgiu, Maria Alessandra ; Pugliatti, Maura ; Rodolico, Carmelo ; ITALSGEN Consortium, Consortium ; Moglia, Cristina ; Calvo, Andrea ; Ossola, Irene ; Brunetti, Maura ; Traynor, Bryan J. ; Borghero, Giuseppe ; Restagno, Gabriella ; Chiò, Adriano. / C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. In: Neurobiology of Aging. 2012 ; Vol. 33, No. 8.
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title = "C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.",
abstract = "It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7{\%}) of 1624 mainland Italians and Sicilians and 9 (6.8{\%}) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2{\%}) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5{\%}) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia.",
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AU - Sabatelli, Mario

AU - Conforti, Francesca Luisa

AU - Zollino, Marcella

AU - Mora, Gabriele

AU - Monsurrò, Maria Rosaria

AU - Volanti, Paolo

AU - Marinou, Kalliopi

AU - Salvi, Fabrizio

AU - Corbo, Massimo

AU - Giannini, Fabio

AU - Battistini, Stefania

AU - Penco, Silvana

AU - Lunetta, Christian

AU - Quattrone, Aldo

AU - Gambardella, Antonio

AU - Logroscino, Giancarlo

AU - Simone, Isabella

AU - Bartolomei, Ilaria

AU - Pisano, Fabrizio

AU - Tedeschi, Gioacchino

AU - Conte, Amelia

AU - Spataro, Rossella

AU - La Bella, Vincenzo

AU - Caponnetto, Claudia

AU - Mancardi, Gianluigi

AU - Mandich, Paola

AU - Sola, Patrizia

AU - Mandrioli, Jessica

AU - Renton, Alan E.

AU - Majounie, Elisa

AU - Abramzon, Yevgeniya

AU - Marrosu, Francesco

AU - Marrosu, Maria Giovanna

AU - Murru, Maria Rita

AU - Sotgiu, Maria Alessandra

AU - Pugliatti, Maura

AU - Rodolico, Carmelo

AU - ITALSGEN Consortium, Consortium

AU - Moglia, Cristina

AU - Calvo, Andrea

AU - Ossola, Irene

AU - Brunetti, Maura

AU - Traynor, Bryan J.

AU - Borghero, Giuseppe

AU - Restagno, Gabriella

AU - Chiò, Adriano

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N2 - It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia.

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