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Article

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.

Brain : a journal of neurology - 1 Dec 2017

Robak Laurie A, Jansen Iris E, van Rooij Jeroen, Uitterlinden André G, Kraaij Robert, Jankovic Joseph, Heutink Peter, Shulman Joshua M

Abstract excerpt

Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes,...

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Identifiers

PMID: 29140481
DOI: 10.1093/brain/awx285
PMCID: PMC5841393

Genes

ASAH1
CTSD
SMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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