作者
Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas
发表日期
2012/4/1
期刊
Journal of medical genetics
卷号
49
期号
4
页码范围
258-263
出版商
BMJ Publishing Group Ltd
简介
Background
Expanded GGGGCC hexanucleotide repeats in the promoter of the C9ORF72 gene have recently been identified in frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD and appear as the most common genetic cause of familial (FALS) and sporadic (SALS) forms of ALS.
Methods
We searched for the C9ORF72 repeat expansion in 950 French ALS patients (225 FALS and 725 SALS) and 580 control subjects and performed genotype-phenotype correlations.
Results
The repeat expansion was present in 46% of FALS, 8% of SALS and 0% of controls. Phenotype comparisons were made between FALS patients with expanded C9ORF72 repeats and patients carrying another ALS-related gene (SOD1, TARDBP, FUS) or a yet unidentified genetic defect. SALS patients with and without C9ORF72 repeat expansions were also compared. The C9ORF72 group presented more …
学术搜索中的文章
S Millecamps, S Boillée, I Le Ber, D Seilhean… - Journal of medical genetics, 2012