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DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation by Justus L. Groen; Katja Ritz; Maria Fiorella Contarino; Bart P. van de Warrenburg; Majid Aramideh; Elisabeth M. Foncke; Jacobus J. van Hilten; P. Richard Schuurman; Johannes D. Speelman; Johannes H. Koelman; Rob M.A. de Bie; Frank Baas; Marina A. Tijssen is a Medicine article available to read on EtoBox.
What is DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation about?
## Abstract 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 = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Mo
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- Author
- Justus L. Groen; Katja Ritz; Maria Fiorella Contarino; Bart P. van de Warrenburg; Majid Aramideh; Elisabeth M. Foncke; Jacobus J. van Hilten; P. Richard Schuurman; Johannes D. Speelman; Johannes H. Koelman; Rob M.A. de Bie; Frank Baas; Marina A. Tijssen
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)
- Published
- 2010
- Language
- EN
- Field
- Medicine (Health Sciences)