Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

@article{PaisnRuiz2009IdentificationOA,
  title={Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.},
  author={Coro Pais{\'a}n-Ruiz and Javier Ru{\'i}z-Mart{\'i}nez and Marta Ruibal and Kin Y. Mok and Bego{\~n}a Indakoetxea and Ana Gorostidi and Jos{\'e} F{\'e}lix Mart{\'i} Mass{\'o}},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2009},
  volume={24 16},
  pages={2428-9}
}
Dystonia is a movement disorder characterized by involuntary, sustained muscular contractions affecting one or more sites of the body and abnormal postures. The clinical spectrum of dystonia is diverse: however, the most common form of the disease is primary torsion dystonia (PTD). PTD usually onsets in infancy or adolescence and affects the trunk, neck, or limbs. Two genes are associated with PTD, DYT1 (OMIM 128100; TOR1A) and DYT6 (OMIM 609520; THAP1). Mutations in THAP1 were, first… CONTINUE READING