作者
Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Chiara Villa, Rossana Bonsi, Andrea Arighi, Giorgio G Fumagalli, Roberto Del Bo, Amalia C Bruni, Maria Anfossi, Alessandra Clodomiro, Chiara Cupidi, Benedetta Nacmias, Sandro Sorbi, Irene Piaceri, Silvia Bagnoli, Valentina Bessi, Alessandra Marcone, Chiara Cerami, Stefano F Cappa, Massimo Filippi, Federica Agosta, Giuseppe Magnani, Giancarlo Comi, Massimo Franceschi, Innocenzo Rainero, Maria Teresa Giordana, Elisa Rubino, Patrizia Ferrero, Ekaterina Rogaeva, Zhengrui Xi, Annamaria Confaloni, Paola Piscopo, Giuseppe Bruno, Giuseppina Talarico, Annachiara Cagnin, Francesca Clerici, Bernardo Dell’Osso, Giacomo P Comi, A Carlo Altamura, Claudio Mariani, Elio Scarpini
发表日期
2013/9/1
期刊
Biological psychiatry
卷号
74
期号
5
页码范围
384-391
出版商
Elsevier
简介
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 …
学术搜索中的文章
D Galimberti, C Fenoglio, M Serpente, C Villa, R Bonsi… - Biological psychiatry, 2013
