Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina.Fil: Irisarri, Maximiliano. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina.Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán; Argentina.Fil: Alechine, Evguenia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina.Fil: Pellene, Luis Alejandro. Universidad de Buenos Aires. Hospital de Clínicas, Programa de Parkinson y Movimientos Anormales; Argentina.Fil: Uribe Roca, Claudia. ANLIS Dr. C.G.Malbrán; Argentina.Fil: Micheli, Federico E. Universidad de Buenos Aires. Hospital de Clínicas, Programa de Parkinson y Movimientos Anormales; Argentina.The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. The authors could observe a significantly higher frequency of the H216 variant in dystonic patients lacking ∆GAG as compared with controls.