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Article

Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson's disease.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2020

Stoker Thomas B, Camacho Marta, Winder-Rhodes Sophie, Liu Ganqiang, Scherzer Clemens R, Foltynie Thomas, Evans Jonathan, Breen David P, Barker Roger A, Williams-Gray Caroline H

Abstract excerpt

INTRODUCTION: Variants in the GBA1 gene have been identified as a common risk factor for Parkinson's disease (PD). In addition to pathogenic mutations (those associated with Gaucher disease), a number of 'non-pathogenic' variants also occur at increased frequency in PD. Previous studies have reported that pathogenic variants adversely affect the clinical course of PD. The role of 'non-pathogenic' GBA1 variants on...

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Identifiers

PMID: 32303560
DOI: 10.1136/jnnp-2020-322857
PMCID: PMC7361014

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