Objective: To relate visuo-perceptual performance with cognitive and genetic measures in Parkinson’s disease.

Background: Dementia is a common occurrence in Parkinson’s disease (PD), affecting up to half of patients (1). Patients present heterogeneously in severity and timing of dementia and genetic differences may underpin some of this variability (2,3). We have developed a web-based visual testing platform and shown that this can detect visual deficits in PD (4). Using web-based technology allows us to measure visual changes in large numbers of patients with PD and link these measures with genetic differences. This will also enable us to monitor change in visual performance over time and link this with cognitive performance and biological measures in large numbers of patients with PD.

Method: 33 NHS trusts throughout England are currently recruiting to the study.  Clinical and visuo-perceptual data are being collected using self-complete questionnaires, as well as Montreal Cognitive Assessment (MoCA) over 4 years. DNA is extracted from blood samples and analysed using Illumina Neurochip genotyping array, which includes custom content for variants implicated in neurological diseases.

Results: 387 individuals (330 PD, 57 controls) have been recruited for baseline assessments to date, with 35 PD and 4 controls completing 1 year follow up. At baseline, all PD participants are within the first 5 years of diagnosis, exhibit no cognitive impairment (mean MoCA=27), and aged over 50. Interim results show that performance in visuo-perceptual tasks, specifically recognising biological motion, is related to baseline cognition (R2 = 0.084, p=0.002).  192 samples have been genotyped on the NeuroChip array to date (155 PD samples, 37 controls). We have extracted MAPT haplotype data successfully for 99.4% samples genotyped to date. In PD participants, 69.7% carry the H1/H1 haplotype, 28.3% carry the H1/H2 haplotype and 2.0% carry the H2/H2 haplotype. We will analyse the MAPT haplotypes and other genotypes in relation to visual performance and cognition.

Conclusion: Relating heterogeneity in visual performance with genetic variability will provide some insights into the underlying basis for cognitive deficits in Parkinson’s disease.

References: 1. Williams-Gray, C. H. et al. The CamPaIGN study of Parkinson’s disease: 10-year outlook in an incident population-based cohort. J. Neurol. Neurosurg. Psychiatry 84, 1258–1264 (2013). 2. Fagan, E. S. & Pihlstrøm, L. Genetic risk factors for cognitive decline in Parkinson’s disease: a review of the literature. Eur. J. Neurol. 24, 561–e20 (2017). 3. Kehagia, A. A., Barker, R. A. & Robbins, T. W. Cognitive impairment in Parkinson’s disease: the dual syndrome hypothesis. Neurodegener. Dis. 11, 79–92 (2013). 4. Weil, R. S. et al. Assessing cognitive dysfunction in Parkinson’s disease: An online tool to detect visuo-perceptual deficits. Mov. Disord. 33, 544–553 (2018).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/relating-web-based-visuo-perception-to-cognition-and-genetic-variability-in-parkinsons-disease-interim-report/