1. Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation
- Author
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Irene Piaceri, Giacomo P. Comi, Elio Scarpini, Annachiara Cagnin, Alessandra Marcone, Federica Agosta, Giuseppe Magnani, Patrizia Ferrero, Sandro Sorbi, Giuseppina Talarico, Maria Serpente, Alessandra Clodomiro, Claudio Mariani, Zhengrui Xi, Massimo Filippi, Elisa Rubino, Giancarlo Comi, Massimo Franceschi, Paola Piscopo, Andrea Arighi, Chiara Fenoglio, Francesca Clerici, Chiara Cerami, Valentina Bessi, Bernardo Dell'Osso, Giorgio G. Fumagalli, Chiara Cupidi, Maria Anfossi, Annamaria Confaloni, Chiara Villa, Giuseppe Bruno, Maria Teresa Giordana, Rossana Bonsi, Daniela Galimberti, Amalia C. Bruni, Innocenzo Rainero, Ekaterina Rogaeva, Silvia Bagnoli, A. Carlo Altamura, Stefano F. Cappa, Roberto Del Bo, Benedetta Nacmias, Galimberti, D, Fenoglio, C, Serpente, M, Villa, C, Bonsi, R, Arighi, A, Fumagalli, Gg, Del Bo, M, Bruni, Ac, Anfossi, M, Clodomiro, A, Cupidi, C, Nacmias, B, Sorbi, S, Piaceri, I, Bagnoli, S, Bessi, V, Marcone, A, Cerami, C, Cappa, Sf, Filippi, M, Agosta, F, Magnani, G, Comi, G, Franceschi, M, Rainero, I, Giordana, Mt, Rubino, E, Ferrero, P, Rogaeva, E, Xi, Z, Confaloni, A, Piscopo, P, Bruno, G, Talarico, G, Cagnin, A, Clerici, F, Dell’Osso, B, Comi, Gp, Altamura, Ac, Mariani, C, Scarpini, E., Fumagalli, G, Del Bo, R, Bruni, A, Cappa, S, Giordana, M, Dell'Osso, B, Altamura, A, and Scarpini, E
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Pathology ,Population ,Progressive supranuclear palsy ,C9orf72 ,mental disorders ,medicine ,Dementia ,Humans ,c9orf72 ,clinical presentation ,dementia ,frontotemporal lobar degeneration ,hexanucleotide repeat expansion ,late onset psychosis ,phenotype ,Amyotrophic lateral sclerosis ,education ,Frontotemporal lobar degeneration, C9ORF72 ,Biological Psychiatry ,Aged ,Aged, 80 and over ,education.field_of_study ,DNA Repeat Expansion ,C9orf72 Protein ,Proteins ,Frontotemporal lobar degeneration ,Middle Aged ,medicine.disease ,Psychotic Disorders ,Female ,Frontotemporal Lobar Degeneration ,Trinucleotide repeat expansion ,Psychology - Abstract
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
- Published
- 2013