Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

@article{Clot2010ScreeningOT,
  title={Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype},
  author={Fabienne Clot and David Grabli and Pierre Burbaud and Magali Aya and Pascal Derkinderen and L. Defebvre and Philippe Damier and Pierre Krystkowiak and Pierre Pollak and Eric Leguern and Chan San and Agn{\`e}s Camuzat and Emmanuel Roze and Marie Vidailhet and Alexandra Durr and Alexis Brice},
  journal={neurogenetics},
  year={2010},
  volume={12},
  pages={87-89}
}
Mutations in the THAP1 gene are responsible for an autosomal dominant form of primary torsion dystonia 6 (DYT6) [1]. Patients with DYT6 are characterized usually by childhoodor early-adulthood-onset dystonia, affecting brachial, cervical, or cranial muscles with possible progression towards generalized dystonia [2–5]. We analyzed the three exons of the THAP1 gene by direct sequencing in 113 primary dystonia cases from France, European countries, and North Africa. Familial or isolated cases with… CONTINUE READING

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