Article
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Movement disorders : official journal of the Movement Disorder Society - 30 Oct 2010
Groen Justus L, Ritz Katja, Contarino Maria Fiorella, van de Warrenburg Bart P, Aramideh Majid, Foncke Elisabeth M, van Hilten Jacobus J, Schuurman P Richard, Speelman Johannes D, Koelman Johannes H, de Bie Rob M A, Baas Frank, Tijssen Marina A
Abstract excerpt
Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio-cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult-onset (≥26 years) dystonia (n = 388) and early-onset dystonia (n...
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