Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers
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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease Hedrich K; Djarmati A; Schäfer N; Hering R; Wellenbrock C; Weiss PH; Hilker R; Vieregge P; Ozelius LJ; Heutink P; Bonifati V; Schwinger E; Lang AE; Noth J; Bressman SB; Pramstaller PP; Riess O; Klein C (2004)BACKGROUND: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently ...
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 ...
Bäumer T; Pramstaller PP; Siebner HR; Schippling S; Hagenah J; Peller M; Gerloff C; Klein C; Münchau A (2007)BACKGROUND: In patients with Parkinson disease (PD), transcranial magnetic stimulation (TMS) studies have consistently demonstrated a reduced inhibitory tone in the sensorimotor cortex. It remains unclear whether this is ...