Parkin analysis in early onset Parkinson's disease

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, Ioannis U. Isaias, Barbara Garavaglia, Daniele Ghezzi, Maurizio Travi, Adriano DecarliDomenico A. Coviello, Gianni Pezzoli, Stefano Goldwurm

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)326-333
Number of pages8
JournalParkinsonism and Related Disorders
Volume14
Issue number4
DOIs
Publication statusPublished - May 2008

Keywords

  • Early onset Parkinson's disease
  • Mutation analysis
  • Parkin

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

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