TARDBP, and FUS mutations in familial Amyotrophic Lateral Sclerosis: genotype-phenotype correlations
نویسندگان
چکیده
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 and Vincent Meininger
منابع مشابه
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
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 correlatio...
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Mutations in the SOD1 and TARDBP genes have been commonly identified in Amyotrophic Lateral Sclerosis (ALS). Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients. Similarly to TDP-43 (coded by TARDBP gene), FUS is an RNA binding protein. Using the zebrafish (Danio rerio), we examined the consequences of expressing human...
متن کاملContribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.
OBJECTIVES To quantify the overall contribution of mutations in the currently known amyotrophic lateral sclerosis (ALS) genes in a large cohort of sporadic patients and to make genotype-phenotype correlations. METHODS Screening for SOD1, TARDBP, FUS, ANG, ATXN2, OPTN, and C9ORF72 was carried out in 480 consecutive patients with sporadic ALS (SALS) and in 48 familial ALS (FALS) index patients ...
متن کاملScreening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons of the brain, brainstem and spinal cord. To date, mutations in more than 30 genes have been linked to the pathogenesis of ALS. Among them, SOD1, FUS and TARDBP are ranked as the three most common genes associated with ALS. However, no mutation analysis has been reported in central-southern China. In...
متن کاملAn Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes...
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