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Article

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2020

Greuel Andrea, Trezzi Jean-Pierre, Glaab Enrico, Ruppert Marina C, Maier Franziska, Jäger Christian, Hodak Zdenka, Lohmann Katja, Ma Yilong, Eidelberg David, Timmermann Lars, Hiller Karsten, Tittgemeyer Marc, Drzezga Alexander, Diederich Nico, Eggers Carsten

Abstract excerpt

BACKGROUND: Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants p.E365K and p.T408M are associated with PD but not with Gaucher's disease. The pathophysiological role of these variants needs to be further explored. OBJECTIVE: This study analyzed clinical,...

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Identifiers

PMID: 32853481
DOI: 10.1002/mds.28225

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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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