A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
Fiche publication
Date publication
novembre 2016
Journal
BMC neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Renaud M, Marcel C, Rudolf G, Schaeffer M, Lagha-Boukbiza O, Chanson JB, Chelly J, Anheim M, Tranchant C
Lien Pubmed
Résumé
Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C, p. R484 W and p. S685G mutations.
Mots clés
Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Anoctamins, Chloride Channels, genetics, Dystonic Disorders, genetics, Essential Tremor, genetics, Female, Genetic Association Studies, High-Temperature Requirement A Serine Peptidase 2, Humans, Male, Middle Aged, Mitochondrial Proteins, genetics, Mutation, Prospective Studies, Serine Endopeptidases, genetics, Young Adult
Référence
BMC Neurol. 2016 Nov 23;16(1):238