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.
|Titolo:||Parkin analysis in early onset Parkinson's disease|
|Parole Chiave:||Early onset Parkinson's disease; Mutation analysis; Parkin|
|Settore Scientifico Disciplinare:||Settore MED/01 - Statistica Medica|
Settore MED/03 - Genetica Medica
|Data di pubblicazione:||mag-2008|
|Digital Object Identifier (DOI):||10.1016/j.parkreldis.2007.10.003|
|Appare nelle tipologie:||01 - Articolo su periodico|