Role of parkin mutations in 111 community‐based patients with early‐onset parkinsonism

• DOI: 10.1002/ana.10179
• Publication Date: 2002-10-06T12:20:06Z
• Authors: Martin Kann; Helfried Jacobs; Kathrin Mohrmann; Kirsten Schumacher; Katja Hedrich; Jennifer Garrels; Karin Wiegers; Eberhard Schwinger; Peter P. Pramstaller; Xandra O. Breakef...; Laurie J. Ozelius; Peter Vieregge; Christine Klein
• Keywords: Adult; Male; Ubiquitin-Protein Ligases; Exons; Middle Aged; Ligases; 03 medical and health sciences; 0302 clinical medicine; Parkinsonian Disorders; Residence Characteristics; Mutation; Humans; Female; Age of Onset

AbstractEarly‐onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community‐derived early‐onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early‐onset parkinsonism patients in a community‐derived sample.