Novel parkin mutations detected in patients with early-onset Parkinson's disease

Aida M. Bertoli-Avella, José L. Giroud-Benitez, Ali Akyol, Egberto Barbosa, Onno Schaap, Herma C. van der Linde, Emilia Martignoni, Leonardo Lopiano, Paolo Lamberti, Emiliana Fincati, Angelo Antonini, Fabrizio Stocchi, Pasquale Montagna, Ferdinando Squitieri, Paolo Marini, Giovanni Abbruzzese, Giovanni Fabbrini, Roberto Marconi, Alessio Dalla Libera, Giorgio TrianniMarco Guidi, Antonio De Gaetano, Gustavo Boff Maegawa, Antonino De Leo, Virgilio Gallai, Giulia de Rosa, Nicola Vanacore, Giuseppe Meco, Cornelia M. van Duijn, Ben A. Oostra, Peter Heutink, Vincenzo Bonifati, Edito Fabrizio, Nicoletta Locuratolo, Luigi Martini, Laura Vacca, Francesca De Pandis, Carlo Colosimo, Mario Manfredi, Alessia Tavella, Bruno Bergamasco, Cristina Tassorelli, Claudio Pacchetti, Giuseppe Nappi, Stefano Goldwurm, Gianni Pezzoli, Daniela Calandrella, Giulio Riboldazzi, Giancarlo Ferrari, Roberto Tarletti, Roberto Cantello, Roberta Marchese, Cesa Scaglione, Paolo Martinelli, Francesca Massaro, Marco Guidi, Chiara Minardi, Fabrizio Rasi, Alessia Lanari, Pierluigi Brustenghi, Milena Cannella, Michele de Mari, Cosimo di Roma, Gianni Iliceto, Vincenzo Toni, Giulio Coppola, Alfonso Mauro, Susan Hsin Fen Chien, Aurelio Pimenta Dutra, Surey K. Nagahashi, Laura Jardim, Carlos Rieder, Nefati Kiylioglu, Kübra Temocin, Hakar Ulucan

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of <45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost-effective, real-time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen parkin alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS113C>G, and exon 8-9-10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP.

Original languageEnglish (US)
Pages (from-to)424-431
Number of pages8
JournalMovement Disorders
Issue number4
StatePublished - Apr 2005
Externally publishedYes


  • Early-onset
  • Gene dosage
  • Mutation
  • Parkin
  • Parkinson's disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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