作者
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, Paul Gordon, Bernard Bricka, Agnès Camuzat, Léna Guillot-Noël, Odile Russaouen, Gaëlle Bruneteau, Pierre-François Pradat, Nadine Le Forestier, Nadia Vandenberghe, Véronique Danel-Brunaud, Nathalie Guy, Christel Thauvin-Robinet, Lucette Lacomblez, Philippe Couratier, Didier Hannequin, Danielle Seilhean, Isabelle Le Ber, Philippe Corcia, William Camu, Alexis Brice, Guy Rouleau, Eric LeGuern, Vincent Meininger
发表日期
2010/8/1
期刊
Journal of medical genetics
卷号
47
期号
8
页码范围
554-560
出版商
BMJ Publishing Group Ltd
简介
Background
Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS).
Methods
The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls (1000 chromosomes) using molecular analysis techniques and performing phenotype–genotype correlations.
Results
31 pathogenic missense mutations were found in 36 patients (20 SOD1, 1 ANG, 1 VAPB, 7 TARDBP and 7 FUS). Surprisingly two FUS mutation carriers also harboured ANG variants. One family of Japanese origin with the P56S VAPB mutation was identified. Seven novel mutations (three in SOD1, two in TARDBP, two in FUS) were found. None of them was detected in controls. Segregation of detected mutations with the disease was confirmed in 11 families including five pedigrees carrying the novel …
引用总数
学术搜索中的文章
S Millecamps, F Salachas, C Cazeneuve, P Gordon… - Journal of medical genetics, 2010