GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

Di Fonzo, Alessio; Fabrizio, Edito; Thomas, Astrid; Fincati, Emiliana; Marconi, Roberto; Tinazzi, Michele; Breedveld, Guido J.; Simons, Erik J.; Chien, Hsin F.; Ferreira, Joaquim J.; Horstink, Martin W.; Abbruzzese, Giovanni; Borroni, Barbara; Cossu, Giovanni; Libera, Alessio Dalla; Fabbrini, Giovanni; Guidi, Marco; De Mari, Michele; Lopiano, Leonardo; Martignoni, Emilia; Marini, Paolo; Onofrj, Marco; Padovani, Alessandro; Stocchi, Fabrizio; Toni, Vincenzo; Sampaio, Cristina; Barbosa, Egberto R.; Meco, Giuseppe; The Italian Parkinson Genetics Network,; Oostra, Ben A.; Bonifati, Vincenzo

doi:10.1016/j.parkreldis.2009.05.001

« Previous Next »Parkinsonism & Related Disorders
Volume 15, Issue 9 , Pages 703-705, 5 November 2009

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease☆

Alessio Di Fonzo
- Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
- Department of Neurological Sciences, University of Milan, and Foundation “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy
Edito Fabrizio
- Department of Neurological Sciences, “Sapienza” University, Rome, Italy
Astrid Thomas
- Department of Oncology and Neuroscience, University Chieti-Pescara, Italy
Emiliana Fincati
- Department of Neurology, University of Verona, Italy
Roberto Marconi
- Neurology Division, “Misericordia” Hospital, Grosseto, Italy
Michele Tinazzi
- Neurology Division, “Borgo Trento” Hospital, Verona, Italy
Guido J. Breedveld
- Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Erik J. Simons
- Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Hsin F. Chien
- Department of Neurology, University of São Paulo, Brazil
Joaquim J. Ferreira
- Neurological Clinical Research Unit, Institute of Molecular Medicine, Lisbon, Portugal
Martin W. Horstink
- Department of Neurology, Radboud University Nijmegen Medical Center, The Netherlands
Giovanni Abbruzzese
- Department of Neurosciences, Ophthalmology & Genetics, University of Genova, Italy
Barbara Borroni
- Department of Neurology, University of Brescia, Italy
Giovanni Cossu
- Neurology Service, General Hospital S. Michele – AOB “G. Brotzu”, Cagliari, Italy
Alessio Dalla Libera
- Neurology Division, “Boldrini” Hospital, Thiene, Italy
Giovanni Fabbrini
- Department of Neurological Sciences, “Sapienza” University, Rome, Italy
- Neuromed Institute, Pozzilli, Italy
Marco Guidi
- Neurology Division, INRCA Institute, Ancona, Italy
Michele De Mari
- Department of Neurology, University of Bari, Italy
Leonardo Lopiano
- Department of Neuroscience, University of Turin, Italy
Emilia Martignoni
- Department of Medical Sciences, “A. Avogadro” University, Novara, Italy
Paolo Marini
- Department of Neurology, University of Florence, Italy
Marco Onofrj
- Department of Oncology and Neuroscience, University Chieti-Pescara, Italy
Alessandro Padovani
- Department of Neurology, University of Brescia, Italy
Fabrizio Stocchi
- IRCCS San Raffaele Pisana, Rome, Italy
Vincenzo Toni
- Neurology Division, Hospital of Casarano, Italy
Cristina Sampaio
- Neurological Clinical Research Unit, Institute of Molecular Medicine, Lisbon, Portugal
Egberto R. Barbosa
- Department of Neurology, University of São Paulo, Brazil
Giuseppe Meco
- Department of Neurological Sciences, “Sapienza” University, Rome, Italy
The Italian Parkinson Genetics Network
- The members of the Italian Parkinson Genetics Network are listed in Appendix B
Ben A. Oostra
- Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Vincenzo Bonifati
- Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
- Corresponding author. Tel.: +31 10 7043 382; fax: +31 10 7044 736.

Received 4 March 2009; accepted 1 May 2009.

Abstract

Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD.

Keywords: Parkinson's disease, Genetics, PARK11, GIGYF2, Mutation