ArticleJournal of neurology2013
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Expanding the phenotypic spectrum of THAP1 dystonia: a scoping review with an illustrative case of late-onset focal limb dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Late-Onset Dystonia WithJournal of clinical neurology (Seoul, Korea) · 2023Article
- Movement disorders of the mouth: a review of the common phenomenologies.Journal of neurology · 2022Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.Frontiers in neurology · 2021Review
- Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.PloS one · 2015Article
- Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.Movement disorders : official journal of the Movement Disorder Society · 2014Article
- DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Understanding the anatomy of dystonia: determinants of penetrance and phenotype.Current neurology and neuroscience reports · 2013Review
- The focal dystonias: current views and challenges for future research.Movement disorders : official journal of the Movement Disorder Society · 2013Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary dystonia (PrD) is characterized by sustained muscle contractions, causing twisting and repetitive movements and abnormal postures. Besides DYT1/TOR1A gene, DYT6/THAP1 gene is the second gene known to cause primary pure dystonia. We screened 281 Serbian primary dystonia patients and 106 neurologically healthy control individuals for the GAG deletion in TOR1A gene and for mutations in THAP1 gene by direct sequencing. Nine subjects were found to have the GAG deletion in TOR1A gene. Four coding mutations, including two novel mutations, were identified in the THAP1 gene in five unrelated patients. Two mutations were missense, one was nonsense, and one was 24 bp duplication. None of the coding mutations were seen in 106 control individuals. In addition, one novel nucleotide change in the 5'UTR region of THAP1 gene was detected in two unrelated patients. The mutation frequency of THAP1 gene in Serbian patients with primary dystonia was 1.8 %, similar to the mutation frequency in other populations. Most of the patients reported here with THAP1 mutations had the clinical features of predominantly laryngeal or oromandibular dystonia. Our data expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical regions that are usually spared in DYT1-PrD.
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