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

      Affiliations

    • 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

      Affiliations

    • Department of Neurological Sciences, “Sapienza” University, Rome, Italy
    • ,
  • Astrid Thomas

      Affiliations

    • Department of Oncology and Neuroscience, University Chieti-Pescara, Italy
    • ,
  • Emiliana Fincati

      Affiliations

    • Department of Neurology, University of Verona, Italy
    • ,
  • Roberto Marconi

      Affiliations

    • Neurology Division, “Misericordia” Hospital, Grosseto, Italy
    • ,
  • Michele Tinazzi

      Affiliations

    • Neurology Division, “Borgo Trento” Hospital, Verona, Italy
    • ,
  • Guido J. Breedveld

      Affiliations

    • Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
    • ,
  • Erik J. Simons

      Affiliations

    • Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
    • ,
  • Hsin F. Chien

      Affiliations

    • Department of Neurology, University of São Paulo, Brazil
    • ,
  • Joaquim J. Ferreira

      Affiliations

    • Neurological Clinical Research Unit, Institute of Molecular Medicine, Lisbon, Portugal
    • ,
  • Martin W. Horstink

      Affiliations

    • Department of Neurology, Radboud University Nijmegen Medical Center, The Netherlands
    • ,
  • Giovanni Abbruzzese

      Affiliations

    • Department of Neurosciences, Ophthalmology & Genetics, University of Genova, Italy
    • ,
  • Barbara Borroni

      Affiliations

    • Department of Neurology, University of Brescia, Italy
    • ,
  • Giovanni Cossu

      Affiliations

    • Neurology Service, General Hospital S. Michele – AOB “G. Brotzu”, Cagliari, Italy
    • ,
  • Alessio Dalla Libera

      Affiliations

    • Neurology Division, “Boldrini” Hospital, Thiene, Italy
    • ,
  • Giovanni Fabbrini

      Affiliations

    • Department of Neurological Sciences, “Sapienza” University, Rome, Italy
    • Neuromed Institute, Pozzilli, Italy
    • ,
  • Marco Guidi

      Affiliations

    • Neurology Division, INRCA Institute, Ancona, Italy
    • ,
  • Michele De Mari

      Affiliations

    • Department of Neurology, University of Bari, Italy
    • ,
  • Leonardo Lopiano

      Affiliations

    • Department of Neuroscience, University of Turin, Italy
    • ,
  • Emilia Martignoni

      Affiliations

    • Department of Medical Sciences, “A. Avogadro” University, Novara, Italy
    • ,
  • Paolo Marini

      Affiliations

    • Department of Neurology, University of Florence, Italy
    • ,
  • Marco Onofrj

      Affiliations

    • Department of Oncology and Neuroscience, University Chieti-Pescara, Italy
    • ,
  • Alessandro Padovani

      Affiliations

    • Department of Neurology, University of Brescia, Italy
    • ,
  • Fabrizio Stocchi

      Affiliations

    • IRCCS San Raffaele Pisana, Rome, Italy
    • ,
  • Vincenzo Toni

      Affiliations

    • Neurology Division, Hospital of Casarano, Italy
    • ,
  • Cristina Sampaio

      Affiliations

    • Neurological Clinical Research Unit, Institute of Molecular Medicine, Lisbon, Portugal
    • ,
  • Egberto R. Barbosa

      Affiliations

    • Department of Neurology, University of São Paulo, Brazil
    • ,
  • Giuseppe Meco

      Affiliations

    • Department of Neurological Sciences, “Sapienza” University, Rome, Italy
    • ,
  • The Italian Parkinson Genetics Network

      Affiliations

    • The members of the Italian Parkinson Genetics Network are listed in Appendix B
    • ,
  • Ben A. Oostra

      Affiliations

    • Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
    • ,
  • Vincenzo Bonifati

      Affiliations

    • Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
    • Corresponding Author InformationCorresponding author. Tel.: +31 10 7043 382; fax: +31 10 7044 736.

Received 4 March 2009 ,Accepted 1 May 2009.

References 

  1. Bonifati V. Genetics of parkinsonism. Parkinsonism Relat Disord. 2007;13(Suppl. 3):S233–S241
  2. Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet. 2006;38:1184–1191
  3. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol. 2009;65:19–23
  4. Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, et al. FBXO7 mutations cause autosomal recessive, early-onset Parkinsonian-pyramidal syndrome. Neurology. 2009;72:240–245
  5. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, et al. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet. 2002;71:124–135
  6. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet. 2003;72:1053–1057
  7. Lautier C, Goldwurm S, Durr A, Giovannone B, Tsiaras WG, Pezzoli G, et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet. 2008;82:822–833
  8. Bras J, Simon-Sanchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, et al. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet. 2009;18:341–346
  9. Vilarino-Guell C, Ross OA, Soto AI, Farrer MJ, Haugarvoll K, Aasly JO, et al. Reported mutations in GIGYF2 are not a common cause of Parkinson's disease. Mov Disord. Jan 9, 2009;E-pub ahead of print, DOI: 101002/mds22451
  10. Zimprich A, Schulte C, Reinthaler E, Haubenberger D, Balzar J, Lichtner P, et al. PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat Disord. Feb 26, 2009;E-pub ahead of print
  11. Giovannone B, Lee E, Laviola L, Giorgino F, Cleveland KA, Smith RJ. Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling. J Biol Chem. 2003;278:31564–31573
  12. Sutherland GT, Siebert GA, Newman JR, Silburn PA, Boyle RS, O'Sullivan JD, et al. Haplotype analysis of the PARK11 gene, GIGYF2, in sporadic Parkinson's disease. Mov Disord. 2009;24:449–452

☆ The review of this paper was entirely handled by the Co-Editor-in-Chief, Ronald Pfeiffer.

PII: S1353-8020(09)00114-X

doi: 10.1016/j.parkreldis.2009.05.001

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

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