No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia

    June 2011 in “ Movement Disorders ”
    Christoph Kamm, Nils Uflacker, Friedrich Asmus, Christoph Schrader, Alexander Wolters, Matthias Wittstock, Jens Pahnke, Thomas Gasser, Jens Volkmann, Alexander Münchau, Johann Hagenah, Reiner Benecke, Christine Klein, Katja Lohmann
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    TLDR THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
    The document reports on a study that sequenced the THAP1 gene in 40 carriers of the DYT1 GAG deletion from 22 families, including 26 manifesting carriers and 14 non-manifesting carriers, to investigate the role of THAP1/DYT6 gene variants in DYT1 dystonia. No THAP1 mutations were found in the carriers, and the study concluded that THAP1 mutations are not disease modifiers in DYT1 dystonia, suggesting that other factors may influence the disorder. Another part of the document discusses a separate study with 10 patients that found finasteride treatment significantly reduced tic severity and obsessive-compulsive symptoms in patients with Tourette syndrome, indicating its potential as a therapeutic option.
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