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The significance of GBA for Parkinson’s disease

  • ICIEM Symposium 2013
  • Published:
Journal of Inherited Metabolic Disease

Abstract

From the first descriptions of Parkinson’s disease (PD) and Gaucher’s disease (GD) in the nineteenth century, it took more than 100 years to discover the link between the GBA gene and Parkinsonism. The observation that mutations in the GBA gene represent the most common genetic risk factor for PD so far only came into focus because of astute clinical observation of Gaucher patients and their families. In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii) present clinical characteristics of GBA-associated Parkinsonism, (iii) discuss possible mechanisms of the underlying pathogenesis in GBA-associated Parkinsonism, and (iv) provide an outlook on potentially new areas of research and treatment that arise from this important discovery.

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Compliance with Ethics Guidelines

Dr. Brockmann has received a grant from the University of Tuebingen (TUEFF) and the Michael J. Fox Foundation as well as funding for travel of the Movement Disorders Society.

Dr. Berg has served on scientific advisory boards for Novartis, UCB/ SCHWARZ PHARMA, GlaxoSmithKline, and Teva Pharmaceutical Industries Ltd.; has received funding for travel or speaker honoraria from Boehringer Ingelheim, Lundbeck Inc., Novartis, GlaxoSmithKline, UCB/ SCHWARZ PHARMA, Merck Serono, Johnson & Johnson, and Teva Pharmaceutical Industries Ltd.; and has received research support from Janssen, Teva Pharmaceutical Industries Ltd., Solvay Pharmaceuticals, Inc./Abbott, Boehringer, UCB, Michael J Fox Foundation, BMBF, dPV (German Parkinson’s disease association), and Center of Integrative Neurosciences.

Conflict of interest

None.

Human and Animal Rights and Informed Consent

This review article provides information on published as well as unpublished data from human subjects obtained by the authors. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutiona and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

This review article does not contain any studies with animal subjects performed by the any of the authors.

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Authors and Affiliations

  1. Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

    Kathrin Brockmann & Daniela Berg

  2. Graduate School of Cellular and Molecular Neuroscience, Tübingen, Germany

    Kathrin Brockmann

  3. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany

    Kathrin Brockmann & Daniela Berg

  4. Center of Neurology, Department of Neurodegeneration, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany

    Kathrin Brockmann

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  1. Kathrin Brockmann
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Correspondence to Kathrin Brockmann.

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Communicated by: Alberto B. Burlina

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Brockmann, K., Berg, D. The significance of GBA for Parkinson’s disease. J Inherit Metab Dis 37, 643–648 (2014). https://doi.org/10.1007/s10545-014-9714-7

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  • DOI: https://doi.org/10.1007/s10545-014-9714-7

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