## Abstract Parkin, an E2βdependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the lateβonset form of Parkinson's disease (PD) is not firmly established. Previously, we detected linkage of idiopathic PD to the r
Frequency of parkin mutations in late-onset Parkinson's disease
β Scribed by Christine Klein; Katja Hedrich; Claudia Wellenbrock; Martin Kann; Juliette Harris; Karen Marder; Anthony E. Lang; Eberhard Schwinger; Laurie J. Ozelius; Peter Vieregge; Peter P. Pramstaller; Patricia L. Kramer
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 61 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0364-5134
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We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in 77 subjects. Among the 25 patients, 5 carried compound heterozygous mutations