Journal
MOVEMENT DISORDERS
Volume 25, Issue 14, Pages 2420-2427Publisher
WILEY
DOI: 10.1002/mds.23285
Keywords
DYT6; THAP1; genetic screening; deep brain stimulation
Categories
Funding
- Prinses Beatrix Fund
- AMC Graduate School
- Princess Beatrix Fund (The Netherlands)
- Brain Foundation (The Netherlands)
- European Union [EuroSCA/LSHM-CT-2004-503304]
- Ipsen Pharmaceuticals (The Netherlands)
- Dutch Government [BSIK03016]
- Medtronic
- The Netherlands Organisation for Health Research and Development [016.056.333]
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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. (C) 2010 Movement Disorder Society
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