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 Decarli; Domenico A. Coviello; Gianni Pezzoli; Stefano Goldwurm

doi:10.1016/j.parkreldis.2007.10.003

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 journal › Article › peer-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 language	English
Pages (from-to)	326-333
Number of pages	8
Journal	Parkinsonism and Related Disorders
Volume	14
Issue number	4
DOIs	https://doi.org/10.1016/j.parkreldis.2007.10.003
Publication status	Published - May 2008

Keywords

Early onset Parkinson's disease
Mutation analysis
Parkin

ASJC Scopus subject areas

Ageing
Clinical Neurology
Neurology

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Sironi, F., Primignani, P., Zini, M., Tunesi, S., Ruffmann, C., Ricca, S., Brambilla, T., Antonini, A., Tesei, S., Canesi, M., Zecchinelli, A., Mariani, C., Meucci, N., Sacilotto, G., Cilia, R., Isaias, I. U., Garavaglia, B., Ghezzi, D., Travi, M., ... Goldwurm, S. (2008). Parkin analysis in early onset Parkinson's disease. Parkinsonism and Related Disorders, 14(4), 326-333. https://doi.org/10.1016/j.parkreldis.2007.10.003

Parkin analysis in early onset Parkinson's disease. / Sironi, Francesca; Primignani, Paola; Zini, Michela; Tunesi, Sara; Ruffmann, Claudio; Ricca, Sara; Brambilla, Tiziana; Antonini, Angelo; Tesei, Silvana; Canesi, Margherita; Zecchinelli, Anna; Mariani, Claudio; Meucci, Nicoletta; Sacilotto, Giorgio; Cilia, Roberto; Isaias, Ioannis U.; Garavaglia, Barbara; Ghezzi, Daniele; Travi, Maurizio; Decarli, Adriano; Coviello, Domenico A.; Pezzoli, Gianni; Goldwurm, Stefano.

In: Parkinsonism and Related Disorders, Vol. 14, No. 4, 05.2008, p. 326-333.

Research output: Contribution to journal › Article › peer-review

Sironi, F, Primignani, P, Zini, M, Tunesi, S, Ruffmann, C, Ricca, S, Brambilla, T, Antonini, A, Tesei, S, Canesi, M, Zecchinelli, A, Mariani, C, Meucci, N, Sacilotto, G, Cilia, R, Isaias, IU, Garavaglia, B, Ghezzi, D, Travi, M, Decarli, A, Coviello, DA, Pezzoli, G & Goldwurm, S 2008, 'Parkin analysis in early onset Parkinson's disease', Parkinsonism and Related Disorders, vol. 14, no. 4, pp. 326-333. https://doi.org/10.1016/j.parkreldis.2007.10.003

Sironi, Francesca ; Primignani, Paola ; Zini, Michela ; Tunesi, Sara ; Ruffmann, Claudio ; Ricca, Sara ; Brambilla, Tiziana ; Antonini, Angelo ; Tesei, Silvana ; Canesi, Margherita ; Zecchinelli, Anna ; Mariani, Claudio ; Meucci, Nicoletta ; Sacilotto, Giorgio ; Cilia, Roberto ; Isaias, Ioannis U. ; Garavaglia, Barbara ; Ghezzi, Daniele ; Travi, Maurizio ; Decarli, Adriano ; Coviello, Domenico A. ; Pezzoli, Gianni ; Goldwurm, Stefano. / Parkin analysis in early onset Parkinson's disease. In: Parkinsonism and Related Disorders. 2008 ; Vol. 14, No. 4. pp. 326-333.

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