Journal
MOVEMENT DISORDERS
Volume 35, Issue 11, Pages 2090-2095Publisher
WILEY
DOI: 10.1002/mds.28171
Keywords
CADASIL; NOTCH3; ONDRI; Parkinson's disease; white matter hyperintensities
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Funding
- Ontario Brain Institute
- Ontario government
- Baycrest Foundation
- Bruyere Research Institute, Centre for Addiction and Mental Health Foundation
- London Health Sciences Foundation
- McMaster University Faculty of Health Sciences
- Ottawa Brain and Mind Research Institute
- Queen's University Faculty of Health Sciences
- Thunder Bay Regional Health Sciences Centre
- University of Ottawa Faculty of Medicine
- Windsor/Essex County ALS Association
- Temerty Family Foundation
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Background White matter hyperintensities (WMH) on magnetic resonance imaging may influence clinical presentation in patients with Parkinson's disease (PD), although their significance and pathophysiological origins remain unresolved. Studies examining WMH have identified pathogenic variants inNOTCH3as an underlying cause of inherited forms of cerebral small vessel disease. Methods We examinedNOTCH3variants, WMH volumes, and clinical correlates in 139 PD patients in the Ontario Neurodegenerative Disease Research Initiative cohort. Results We identified 13 PD patients (similar to 9%) with rare (<1% of general population), nonsynonymousNOTCH3variants. Bayesian linear modeling demonstrated a doubling of WMH between variant negative and positive patients (3.1 vs. 6.9 mL), with large effect sizes for periventricular WMH (d= 0.8) and lacunes (d= 1.2). Negative correlations were observed between WMH and global cognition (r= -0.2). Conclusion TheNOTCH3rare variants in PD may significantly contribute to increased WMH burden, which in turn may negatively influence cognition. (c) 2020 International Parkinson and Movement Disorder Society
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