DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation

Autor: Bart P.C. van de Warrenburg, Katja Ritz, Rob M.A. de Bie, E.M.J. Foncke, Marina A. J. Tijssen, Jacobus J. van Hilten, P. Richard Schuurman, Johannes D. Speelman, Frank Baas, Justus L. Groen, Majid Aramideh, Maria Fiorella Contarino, J.H. Koelman
Přispěvatelé: Genome Analysis, Neurology, ANS - Amsterdam Neuroscience, Neurosurgery, NCA - Neurodegeneration
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Nonsynonymous substitution
Adult
Male
congenital
hereditary
and neonatal diseases and abnormalities
Deep brain stimulation
Adolescent
Genotype
medicine.medical_treatment
Deep Brain Stimulation
Dystonia Musculorum Deformans
Bioinformatics
Globus Pallidus
DYT6 THAP1 genetic screening deep brain stimulation primary generalized dystonia early-onset dystonia torsion dystonia globus-pallidus thap1 gene variants pathways module
Cohort Studies
Young Adult
medicine
otorhinolaryngologic diseases
Humans
Cervical dystonia
Genetic Testing
Age of Onset
Aged
Netherlands
Dystonia
Family Health
business.industry
Nuclear Proteins
Focal dystonia
Middle Aged
medicine.disease
Phenotype
nervous system diseases
DNA-Binding Proteins
Neurology
Mutation
Female
Neurology (clinical)
Age of onset
business
Apoptosis Regulatory Proteins
Neuroscience
Functional Neurogenomics [DCN 2]
Zdroj: Movement Disorders, 25, 2420-7
Movement disorders, 25(14), 2420-2427. John Wiley and Sons Inc.
Groen, J L, Ritz, K, Contarino, M F, van de Warrenburg, B P, Aramideh, M, Foncke, E M J, van Hilten, J J, Schuurman, P R, Speelman, J D, Koelman, J H, de Bie, R M A, Baas, F & Tijssen, M A 2010, ' DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation ', Movement Disorders, vol. 25, no. 14, pp. 2429-2427 . https://doi.org/10.1002/mds.23285
Movement Disorders, 25, 14, pp. 2420-7
Movement Disorders, 25(14), 2429-2427. John Wiley and Sons Inc.
Movement Disorders, 25(14), 2420-2427
ISSN: 0885-3185
DOI: 10.1002/mds.23285
Popis: Contains fulltext : 88049.pdf (Publisher’s version ) (Closed access) 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.
Databáze: OpenAIRE
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