• Please log in or register to access this feature.

Brief Report

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

  1. Raquel Duran PhD1,†,
  2. Niccolo E. Mencacci MD1,2,†,
  3. Aikaterini V. Angeli MD3,
  4. Maryam Shoai PhD1,
  5. Emma Deas PhD1,
  6. Henry Houlden MD, MRCP, PhD1,
  7. Atul Mehta FRCP5,
  8. Derralynn Hughes MA, DPhilN FRCP, FRCPath5,
  9. Timothy M. Cox MD, FRCP, FMedSci6,
  10. Patrick Deegan MD, FRCP Edin, FRCPath6,
  11. Anthony H. Schapira MD, FRCP, FMedSci4,
  12. Andrew J. Lees MD, FRCP1,
  13. Patricia Limousin MN, PhD3,
  14. Paul R. Jarman PhD, FRCP3,
  15. Kailash P. Bhatia MD, DM, FRCP3,
  16. Nicholas W. Wood PhD FRCP FMedSci1,
  17. John Hardy PhD, FMedSci, FRS1,*,
  18. Tom Foltynie PhD, MRCP3

Article first published online: 5 DEC 2012

DOI: 10.1002/mds.25248

Issue

Movement Disorders

Movement Disorders

Volume 28, Issue 2, pages 232–236, February 2013

Additional Information

How to Cite

Duran, R., Mencacci, N. E., Angeli, A. V., Shoai, M., Deas, E., Houlden, H., Mehta, A., Hughes, D., Cox, T. M., Deegan, P., Schapira, A. H., Lees, A. J., Limousin, P., Jarman, P. R., Bhatia, K. P., Wood, N. W., Hardy, J. and Foltynie, T. (2013), The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov. Disord., 28: 232–236. doi: 10.1002/mds.25248

Author Information

  1. 1

    Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, London, UK

  2. 2

    Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Center, Università degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milan, Italy

  3. 3

    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK

  4. 4

    Department of Clinical Neurosciences, Institute of Neurology, UCL Medical School, Royal Free Hospital, London, UK

  5. 5

    Lysosomal Storage Disorders Unit, Department of Haematology, UCL Medical School, Royal Free Hospital, London, UK

  6. 6

    Lysosomal Diseases Unit, Addenbrookes Hospital, Department of Medicine, University of Cambridge, Cambridge, UK

  1. †

    Drs. Duran and Mencacci made equal contributions.

*Correspondence to: Prof. John Hardy, Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; j.hardy@ucl.ac.uk

  1. Funding agencies: R.D. received a postdoctoral fellowship from Alfonso Martin Escudero Foundation (Spain). J.H., N.W., and A.H.S. received research support from the UK Medical Research Council and Wellcome Trust. This work was supported by a Wellcome/MRC Parkinson's Disease Consortium grant to UCL/IoN, the University of Sheffield, and the MRC Protein Phosphorylation Unit at the University of Dundee (grant no.: WT089698). Funding to pay the Open Access publication charges for this article was provided by the Wellcome/MRC Parkinson's Disease Consortium grant to UCL/IoN, the University of Sheffield, and the MRC Protein Phosphorylation Unit at the University of Dundee. The clinical sample collection was supported by Parkinson's UK (K-0901; to T.F. and N.W.). Additional support came from the Reta Lila Trust (to A.J.L. and J.H.).

  2. Relevant conflicts of interest/financial disclosures: Nothing to report.

  3. Full financial disclosures and author roles may be found in the online version of this article.

  4. †

    Drs. Duran and Mencacci made equal contributions.

Publication History

  1. Issue published online: 23 FEB 2013
  2. Article first published online: 5 DEC 2012
  3. Manuscript Accepted: 20 AUG 2012
  4. Manuscript Revised: 30 JUL 2012
  5. Manuscript Received: 25 MAY 2012

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article with Supporting Information (HTML) Get PDF (177K)

Options for accessing this content:

  • If you have access to this content through a society membership, please first log in to your society website.
  • If you would like institutional access to this content, please recommend the title to your librarian.
  • Login via other institutional login options http://onlinelibrary.wiley.com/login-options.
  • You can purchase online access to this Article for a 24-hour period (price varies by title)
    • If you already have a Wiley Online Library or Wiley InterScience user account: login above and proceed to purchase the article.
    • New Users: Please register, then proceed to purchase the article.

If your institution is a registered Wiley Online Library customer, you can log in under your institution's name to see our content. This access is provided by Shibboleth or Athens.

Type your institution's name in the box below. If your institution is a Wiley customer, it will appear in the list of suggested institutions.

Please register to:

  • Save publications, articles and searches
  • Get email alerts
  • Get all the benefits mentioned below!

Register now >

View Full Article with Supporting Information (HTML) Get PDF (177K)