| Literature DB >> 12112109 |
Martin Kann1, Helfried Jacobs, Kathrin Mohrmann, Kirsten Schumacher, Katja Hedrich, Jennifer Garrels, Karin Wiegers, Eberhard Schwinger, Peter P Pramstaller, Xandra O Breakefield, Laurie J Ozelius, Peter Vieregge, Christine Klein.
Abstract
Early-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.Entities:
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Year: 2002 PMID: 12112109 DOI: 10.1002/ana.10179
Source DB: PubMed Journal: Ann Neurol ISSN: 0364-5134 Impact factor: 10.422