Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 643–648

The significance of GBA for Parkinson’s disease

ICIEM Symposium 2013

DOI: 10.1007/s10545-014-9714-7

Cite this article as:
Brockmann, K. & Berg, D. J Inherit Metab Dis (2014) 37: 643. doi:10.1007/s10545-014-9714-7


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.

Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  2. 2.Graduate School of Cellular and Molecular NeuroscienceTübingenGermany
  3. 3.German Center for Neurodegenerative Diseases (DZNE)BonnGermany
  4. 4.Center of Neurology, Department of Neurodegeneration, Hertie-Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany