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.

Parkin analysis in early onset Parkinson's disease / F. Sironi, P. Primignani, M. Zini, S. Tunesi, C. Ruffmann, S. Ricca, T. Brambilla, A. Antonini, S. Tesei, M. Canesi, A. Zecchinelli, C. Mariani, N. Meucci, G. Sacilotto, R. Cilia, I.U. Isaias, B. Garavaglia, D. Ghezzi, M. Travi, A. Decarli, D.A. Coviello, G. Pezzoli, S. Goldwurm. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 14:4(2008 May), pp. 326-333. [10.1016/j.parkreldis.2007.10.003]

Parkin analysis in early onset Parkinson's disease

S. Tunesi;D. Ghezzi;A. Decarli;
2008-05

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.
Early onset Parkinson's disease; Mutation analysis; Parkin
Settore MED/01 - Statistica Medica
Settore MED/03 - Genetica Medica
PARKINSONISM & RELATED DISORDERS
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/43749
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