C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
| Autor: | Mario, Sabatellia, Francesca Luisa Conforti, Marcella, Zollinoc, Gabriele, Morad, Maria Rosaria Monsurrò, Paolo, Volanti, Kalliopi, Marinoud, Fabrizio, Salvig, Massimo, Corbo, Fabio, Giannini, Stefania, Battistini, Silvana, Penco, Christian, Lunetta, Aldo, Quattrone, Antonio, Gambardella, Giancarlo, Logroscino, Isabella, Simone, Ilaria, Bartolomei, Fabrizio, Pisano, Gioacchino, Tedeschi, Amelia, Conte, Rossella, Spataro, Vincenzo La Bella, Claudia, Caponnetto, Gianluigi, Mancardi, Paola, Mandich, Patrizia, Sola, Jessica, Mandrioli, Renton, Alan E., Elisa, Majounie, Yevgeniya, Abramzon, Francesco, Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura, Pugliatti, Rodolico, Carmelo, the ITALSGEN Consortium: Stefania Cammarosano, Giuseppe, Fuda, Antonio, Canosa, Sara, Gallo, Laura, Papetti, Giuseppe Lauria Pinter, Marco, Luigetti, Serena, Lattante, Giuseppe, Marangi, Tiziana, Colletti, Claudia, Ricci, Paola, Origone, Gianluca, Floris, Antonino, Cannas, Valeria, Piras, Emanuela, Costantino, Carla, Pani, Parish, Leslie D., Paola, Cossu, Giuliana, Solinas, Lucia, Ulgheri, Anna, Ticca, Francesco, Izzo, Anna, Laiola, Francesca, Trojsi, Portaro, Simona, William, Sproviero, Cristina, Moglia, Andrea, Calvo, Irene, Ossola, Maura, Brunetti, Traynor, Bryan J., Giuseppe, Borghero, Gabriella, Restagno, Adriano, Chiò |
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| Přispěvatelé: | Sabatelli, M, Conforti, Fl, Zollino, M, Mora, G, Monsurro', Maria Rosaria, 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, Gioacchino, 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: Cammarosano, Stefania, Fuda, Giuseppe, Canosa, Antonio, Gallo, Sara, Papetti, Laura, Lauria Pinter, Giuseppe, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Colletti, Tiziana, Ricci, Claudia, Origone, Paola, Floris, Gianluca, Cannas, Antonino, Piras, Valeria, Costantino, Emanuela, Pani, Carla, Parish, Leslie D, Cossu, Paola, Solinas, Giuliana, Lucia, U. l. g. h. e. r. i., Ticca, Anna, Izzo, Francesco, Laiola, Anna, Trojsi, Francesca, Portaro, Simona, Sproviero, William, Moglia, C, Calvo, A, Ossola, I, Brunetti, M, Traynor, Bj, Borghero, G, Restagno, G, Chiò, A., Sabatelli, M., Conforti, F., Zollino, M., Mora, G., Monsurrò, M., 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, A., Majounie, E., Abramzon, Y., Marrosu, F., Marrosu, M., Murru, M., Sotgiu, M., Pugliatti, M., Rodolico, C., Italsgen, C., Moglia, C., Calvo, A., Ossola, I., Brunetti, M., Traynor, B., Borghero, G., Restagno, G. |
| Předmět: |
Male
Aging Survival Pedigree chart Settore MED/03 - GENETICA MEDICA Repetitive Sequences 0302 clinical medicine C9orf72 Polymorphism (computer science) Risk Factors Prevalence Amyotrophic lateral sclerosis Genetics 0303 health sciences education.field_of_study General Neuroscience Single Nucleotide Middle Aged 3. Good health Settore MED/26 - NEUROLOGIA Italy Female Settore MED/26 - Neurologia Frontotemporal dementia Genetic Markers Population C9ORF72 Biology Polymorphism Single Nucleotide Article 03 medical and health sciences medicine Humans Genetic Predisposition to Disease Polymorphism education amyotrophic lateral sclerosis C9orf672 frontotemporal dementia survival Amyotrophic lateral sclerosi 030304 developmental biology Repetitive Sequences Nucleic Acid sporadic C9orf72 Protein Nucleic Acid Amyotrophic lateral sclerosis C9ORF72 Frontotemporal dementia Survival Genetic Variation Proteins medicine.disease Settore BIO/18 - Genetica Neurology (clinical) Geriatrics and Gerontology ALS Trinucleotide repeat expansion 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Scopus-Elsevier Neurobiology of Aging; Vol 33 |
| Popis: | It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 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 (1,238 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 one year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucloetide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the commonest mutation in Italy and the second more common in Sardinia. |
| Databáze: | OpenAIRE |
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