E326K GBA polymorphism is associated with clinical and pathological features of synucleinopathy in the absence of overt Parkinson's disease or Lewy body dementia.

doi:10.1177/1877718X261468542

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Article

E326K GBA polymorphism is associated with clinical and pathological features of synucleinopathy in the absence of overt Parkinson's disease or Lewy body dementia.

Journal of Parkinson's disease - 1 Sept 2026

Arnold Moriah R, Westaway Shawn K, Woltjer Randy L, Gray Nora E, Quinn Joseph F

Abstract excerpt

Heterozygote carriers of Gaucher's disease mutations and other polymorphisms in the glucocerebrosidase (GBA) gene show an increased incidence of Parkinson's disease. We hypothesized that common GBA polymorphisms would be associated with subtle parkinsonian features, mild cognitive impairment, and "silent" Lewy body (LB) pathology in aging individuals without a clinical diagnosis of parkinsonism. The most...

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Topics

Humans
Glucosylceramidase
Female
Male
Aged
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Aged, 80 and over

Synucleinopathies

Lewy Body Disease

Cognitive Dysfunction

Parkinson Disease

Heterozygote

Brain

Source

Open in PubMed Open full text

Identifiers

PMID: 42484558
DOI: 10.1177/1877718X261468542
PMCID: PMC13591438

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