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Ann Neurol ; 51(5): 621-5, 2002 May.
Article in English | MEDLINE | ID: mdl-12112109

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.


Subject(s)
Ligases/genetics , Mutation/genetics , Parkinsonian Disorders/genetics , Ubiquitin-Protein Ligases , Adult , Age of Onset , Exons/genetics , Female , Humans , Male , Middle Aged , Residence Characteristics/statistics & numerical data
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