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Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study.

Clin Park Relat Disord · 2025-07-04

DOI: 10.1016/j.prdoa.2025.100365PMID: 40687116

Open accessresearch-article; Journal ArticleOriginal source ↗

Research overview

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BackgroundCognitive impairment is a major non-motor complication of Parkinson's disease (PD). GBA mutations are associated with an increased risk, with PD-GBA+ patients typically showing earlier disease onset and faster cognitive decline. However, the specific cognitive phenotype of these patients remains unclear.AimTo provide a detailed neuropsychological profile of PD-GBA+ patients compared to PD-GBA- patients.MethodsData from 18 PD-GBA+ and 68 PD-GBA- patients were retrospectively analyzed. All participants underwent comprehensive neurological evaluations of motor and non-motor symptoms, along with a Level II neuropsychological assessment based on the MDS criteria for mild cognitive impairment (MCI). Patients with dementia were excluded.ResultsPD-GBA+ patients showed significantly lower cognitive performance, particularly on the RAVLT immediate recall (RAVLT-IR, p ConclusionsPD-GBA+ patients exhibit a distinctive cognitive phenotype, already evident in the early stages of the disease. These results highlight the added value of Level II neuropsychological assessment in accurately characterizing the clinical phenotype and identifying patients at higher risk of developing dementia. Early cognitive profiling may thus contribute to more targeted monitoring and personalized therapeutic strategies.

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