The p.Asp216His TOR1A allele effect is not found in the French population
Year: 2009
Type: article
Study design: Observational Study
Abstract: DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.
Source: Movement Disorders
DOI: 10.1002/mds.22407
Institutions: Inserm, Université de Montpellier, Institut Universitaire de Recherche Clinique, Université Montpellier 1, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Université Pierre-et-Marie-Curie, Centre Hospitalier Universitaire de Lille, Lyon 1 Université, Hôpital Edouard Herriot, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Nîmes, Hôpital Arnaud de Villeneuve
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2070269079