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Article

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

Neuron - 22 Feb 2017

Aflaki Elma, Westbroek Wendy, Sidransky Ellen

Abstract excerpt

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...

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Identifiers

PMID: 28231462
DOI: 10.1016/j.neuron.2017.01.018
PMCID: PMC5327952

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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