Article
Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Neurology - 10 Feb 2004
Kabakci K, Hedrich K, Leung J C, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman S B, Breakefield X O, Ozelius L J, Pramstaller P P, Klein C
Abstract excerpt
BACKGROUND: Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1. Several lines of evidence suggest a relationship of the DYT1 gene with Parkinson disease (PD). OBJECTIVE: To investigate the frequency and type of DYT1 mutations and...
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