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Neuron. 2017 Feb 22;93(4):737-746. doi: 10.1016/j.neuron.2017.01.018.

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

Author information

1
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.
2
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA. Electronic address: sidranse@mail.nih.gov.

Abstract

The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases.

KEYWORDS:

Gaucher disease; alpha-synuclein; autophagy; glucocerebrosidase; lysosome; parkinsonism

PMID:
28231462
PMCID:
PMC5327952
DOI:
10.1016/j.neuron.2017.01.018
[Indexed for MEDLINE]
Free PMC Article

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