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.
authors.affiliation: Neurological Institute, Catholic University and I.CO.M.M. Association for ALS Research, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.forename: Francesca Luisa
authors.initials: FL
authors.lastname: Conforti
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Gabriele
authors.initials: G
authors.lastname: Mora
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Monsurrò
authors.forename: Paolo
authors.initials: P
authors.lastname: Volanti
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Marinou
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Salvi
authors.forename: Massimo
authors.initials: M
authors.lastname: Corbo
authors.forename: Fabio
authors.initials: F
authors.lastname: Giannini
authors.forename: Stefania
authors.initials: S
authors.lastname: Battistini
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Christian
authors.initials: C
authors.lastname: Lunetta
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Logroscino
authors.forename: Isabella
authors.initials: I
authors.lastname: Simone
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bartolomei
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Pisano
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Tedeschi
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.forename: Rossella
authors.initials: R
authors.lastname: Spataro
authors.forename: Vincenzo
authors.initials: V
authors.lastname: La Bella
authors.forename: Claudia
authors.initials: C
authors.lastname: Caponnetto
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Mancardi
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sola
authors.forename: Jessica
authors.initials: J
authors.lastname: Mandrioli
authors.forename: Alan E
authors.initials: AE
authors.lastname: Renton
authors.forename: Elisa
authors.initials: E
authors.lastname: Majounie
authors.forename: Yevgeniya
authors.initials: Y
authors.lastname: Abramzon
authors.forename: Francesco
authors.initials: F
authors.lastname: Marrosu
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Murru
authors.forename: Maria Alessandra
authors.initials: MA
authors.lastname: Sotgiu
authors.forename: Maura
authors.initials: M
authors.lastname: Pugliatti
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Cristina
authors.initials: C
authors.lastname: Moglia
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Irene
authors.initials: I
authors.lastname: Ossola
authors.forename: Maura
authors.initials: M
authors.lastname: Brunetti
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Borghero
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D000073885:C9orf72 Protein; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012307:Risk Factors
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins