Pathology and Genetics in a Global Cohort of Parkinsonian Disorders

How are genetic variants and neuropathology associated with clinical features and diagnostic accuracy in movement disorders?In this multiancestry brain bank cross-sectional study including over 3000 individuals, clinical misdiagnosis was common; dementia with parkinsonism was more strongly associated with Lewy body (LB) pathology than Parkinson disease without dementia, and Alzheimer disease copathology was frequent. Genetic variation was associated with pathological differences; carriers had greater LB burden, whereas carriers of the pathogenic variant had a lower LB burden and longer survival.Study results suggest that integrating genetics and neuropathology may improve diagnosis and support pathology-informed therapeutic trials.

Corresponding Author: Huw R. Morris, PhD, Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, Room, 901F Queen Square House, London WC1N 3BG, United Kingdom (h.morris@ucl.ac.uk).

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