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