Now showing items 1-5 of 5

    • Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation 

      Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C (2004)
      Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of ...
    • Co-occurrence of restless legs syndrome and Parkin mutations in two families 

      Adel S; Djarmati A; Kabakci K; Pichler I; Eskelson C; Lohnau T; Kock N; Hagenah J; Hedrich K; Schwinger E; Kramer PL; Pramstaller PP; Klein C (2006)
      Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 ...
    • Mutations in DYT1: extension of the phenotypic and mutational spectrum 

      Kabakci K; Hedrich K; Leung JC; Mitterer M; Vieregge P; Lencer R; Hagenah J; Garrels J; Witt K; Klostermann F; Svetel M; Friedman J; Kostic V; Bressman SB; Breakefield XO; Ozelius LJ; Pramstaller PP; Klein C (2004)
      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 ...
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 

      Hedrich K; Pramstaller PP; Stübke K; Hiller A; Kabakci K; Purmann S; Kasten M; Scaglione C; Schwinger E; Volkmann J; Kostic V; Vieregge P; Martinelli P; Abbruzzese G; Klein C; Zühlke C (2005)
      Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation ...
    • Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease 

      Hedrich K; Winkler S; Hagenah J; Kabakci K; Kasten M; Schwinger E; Volkmann J; Pramstaller PP; Kostic V; Vieregge P; Klein C (2006)
      Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset ...