Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1922555 | Parkinsonism & Related Disorders | 2008 | 8 Pages |
Abstract
We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ⩽40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype–phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients.
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Authors
Francesca Sironi, Paola Primignani, Michela Zini, Sara Tunesi, Claudio Ruffmann, Sara Ricca, Tiziana Brambilla, Angelo Antonini, Silvana Tesei, Margherita Canesi, Anna Zecchinelli, Claudio Mariani, Nicoletta Meucci, Giorgio Sacilotto, Roberto Cilia,