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.
Original language | English |
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Pages (from-to) | 326-333 |
Number of pages | 8 |
Journal | Parkinsonism and Related Disorders |
Volume | 14 |
Issue number | 4 |
DOIs | |
Publication status | Published - May 2008 |
Keywords
- Early onset Parkinson's disease
- Mutation analysis
- Parkin
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Neurology