TY - JOUR
T1 - Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion
T2 - Late-onset psychotic clinical presentation
AU - Galimberti, Daniela
AU - Fenoglio, Chiara
AU - Serpente, Maria
AU - Villa, Chiara
AU - Bonsi, Rossana
AU - Arighi, Andrea
AU - Fumagalli, Giorgio G.
AU - Del Bo, Roberto
AU - Bruni, Amalia C.
AU - Anfossi, Maria
AU - Clodomiro, Alessandra
AU - Cupidi, Chiara
AU - Nacmias, Benedetta
AU - Sorbi, Sandro
AU - Piaceri, Irene
AU - Bagnoli, Silvia
AU - Bessi, Valentina
AU - Marcone, Alessandra
AU - Cerami, Chiara
AU - Cappa, Stefano F.
AU - Filippi, Massimo
AU - Agosta, Federica
AU - Magnani, Giuseppe
AU - Comi, Giancarlo
AU - Franceschi, Massimo
AU - Rainero, Innocenzo
AU - Giordana, Maria Teresa
AU - Rubino, Elisa
AU - Ferrero, Patrizia
AU - Rogaeva, Ekaterina
AU - Xi, Zhengrui
AU - Confaloni, Annamaria
AU - Piscopo, Paola
AU - Bruno, Giuseppe
AU - Talarico, Giuseppina
AU - Cagnin, Annachiara
AU - Clerici, Francesca
AU - Dell'Osso, Bernardo
AU - Comi, Giacomo P.
AU - Altamura, A. Carlo
AU - Mariani, Claudio
AU - Scarpini, Elio
PY - 2013/9/1
Y1 - 2013/9/1
N2 - Background: A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration (FTLD). Atypical presentations have been described, particularly psychosis. Methods: We determined the frequency of the hexanucleotide repeat expansions in a population of 651 FTLD patients and compared the clinical characteristics of carriers and noncarriers. In addition, we genotyped 21 patients with corticobasal syndrome, 31 patients with progressive supranuclear palsy, and 222 control subjects. Results: The pathogenic repeat expansion was detected in 39 (6%) patients with FTLD (17 male and 22 female subjects); however, it was not detected in any corticobasal syndrome and progressive supranuclear palsy patients or controls. Twenty-four of 39 carriers had positive family history for dementia and/or amyotrophic lateral sclerosis (61.5%), whereas only 145 of 612 noncarriers had positive family history (23.7%; p
AB - Background: A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration (FTLD). Atypical presentations have been described, particularly psychosis. Methods: We determined the frequency of the hexanucleotide repeat expansions in a population of 651 FTLD patients and compared the clinical characteristics of carriers and noncarriers. In addition, we genotyped 21 patients with corticobasal syndrome, 31 patients with progressive supranuclear palsy, and 222 control subjects. Results: The pathogenic repeat expansion was detected in 39 (6%) patients with FTLD (17 male and 22 female subjects); however, it was not detected in any corticobasal syndrome and progressive supranuclear palsy patients or controls. Twenty-four of 39 carriers had positive family history for dementia and/or amyotrophic lateral sclerosis (61.5%), whereas only 145 of 612 noncarriers had positive family history (23.7%; p
KW - C9ORF72
KW - clinical presentation
KW - dementia
KW - frontotemporal lobar degeneration
KW - hexanucleotide repeat expansion
KW - late onset psychosis
KW - phenotype
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U2 - 10.1016/j.biopsych.2013.01.031
DO - 10.1016/j.biopsych.2013.01.031
M3 - Article
C2 - 23473366
AN - SCOPUS:84882289214
SN - 0006-3223
VL - 74
SP - 384
EP - 391
JO - Biological Psychiatry
JF - Biological Psychiatry
IS - 5
ER -