Genetic epidemiology of C9orf72 in ALS: a national study in Italy (Abstract/Poster in rivista)

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  • Genetic epidemiology of C9orf72 in ALS: a national study in Italy (Abstract/Poster in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Alternative label
  • Adriano Chio22, Stefania Battistini11, Andrea Calvo13, Claudia Caponnetto5, Francesca Conforti4, Massimo Corbo7, Fabio Giannini11, Jessica Mandrioli19, Fabrizio Salvi3, Gabriele Mora7, Mario Sabatelli10, Vincenzo La Bella9, Giancarlo Logroscino16, Isabella Simone14, Maria Monsurrò20, Letizia Mazzini8, Giuseppe Borghero2, Francesco Logullo15, Christian Lunetta1, Paolo Volanti1, Maura Pugliatti6, Paola Mandich18, Sandra D'Alfonso21, Silvana Penco1, Marcella Zollino1, Maria Murru17 and Gabriella Restagno12 (2014)
    Genetic epidemiology of C9orf72 in ALS: a national study in Italy
    (literal)
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  • Adriano Chio22, Stefania Battistini11, Andrea Calvo13, Claudia Caponnetto5, Francesca Conforti4, Massimo Corbo7, Fabio Giannini11, Jessica Mandrioli19, Fabrizio Salvi3, Gabriele Mora7, Mario Sabatelli10, Vincenzo La Bella9, Giancarlo Logroscino16, Isabella Simone14, Maria Monsurrò20, Letizia Mazzini8, Giuseppe Borghero2, Francesco Logullo15, Christian Lunetta1, Paolo Volanti1, Maura Pugliatti6, Paola Mandich18, Sandra D'Alfonso21, Silvana Penco1, Marcella Zollino1, Maria Murru17 and Gabriella Restagno12 (literal)
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  • 82 (literal)
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  • 10 (literal)
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  • 1 2Cagliari Italy 3Cesena (FC) Italy 4Consenza Italy 5Genova Italy 6Milan Italy 7Milano Italy 8Novara Italy 9Palermo Italy 10Rome Italy 11Siena Italy 12Turin Italy 13Dept. of Neuroscience, University of Turin Torino Italy 14Insitute of Neurologist, Univerisity of Bari Italy Bari Italy 15University of Ancona Ancona Italy 16University of Bari Bari Italy 17University of Cagliari Cagliari Italy 18University of Genoa Genova Italy 19University of Modena Modena Italy 20University of Naples Napoli Italy 21University of Novara Novara Italy 22University of Torino Torino Italy (literal)
Titolo
  • Genetic epidemiology of C9orf72 in ALS: a national study in Italy (literal)
Abstract
  • Background. GGGGCC hexanucleotide repeat expansions in the first intron of C9ORF72 gene represent the commonest mutations in ALS patients of Caucasian origin. Europe the frequency of C9ORF72 mutations has a north-to-south decreasing gradient.Aim. To assess the frequency and clinical characteristics C9ORF72 mutations in continental and insular Italy.Methods. All ALS cases seen in 16 Italian ALS centers have been tested for C9ORF72, SOD1, FUS, and TARDBP mutations. Patients' geographical origin has been determined through a detailed evaluation of their pedigrees.Results. Out of a total of 3868 ALS patients, 268 (6.9%) carried a C9ORF72 mutation, 50% of whom have a positive family history for ALS or frontotemporal dementia. The mean age at onset of patients with C9ORF72 mutation was 58.3 (SD 9.4) years, lower than that of cases not carrying the mutation (61.1, SD 12.7) (p=0.0001). No difference in the mean age at onset was found in C9ORF72 patients with positive or negative family history or with bulbar or spinal onset. The frequency of mutations was similar in continental Italy as well in Sicily, while it was significantly higher in Sardinia (12.8% of cases). However, a cluster of C9ORF72 mutations (12.7% of all cases) has been found also in Basilicata, a relatively isolated region of southern Italy, completely surrounded by the Apennines and with only small tracts of coastline. No clinical differences (age and site of onset, cognitive impairment, survival) were found between patients with different regional ancestry. These patients carry a common risk haplotype confirming a founder effect.Conclusions. The frequency of C9ORF72 mutations in Italy is lower than that reported in northern Europe. We fund no clear north-to-south pattern of frequency of C9ORF72 frequency in Italy, with the remarkable exception of two geographical isolates, Sardinia and Basilicata. Regional ancestry do not influence the phenotype of C9ORF72 ALS. (literal)
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