Pathology and genetics in a global cohort of Parkinsonian Disorders - PubMed
6 hours ago
- #Genetic Association
- #Parkinsonian Disorders
- #Neuropathology
- Clinical misdiagnosis rates for movement disorders ranged from 10% to 20% in a large multi-ancestry brain bank cohort.
- Dementia with parkinsonism was more strongly associated with Lewy body pathology than Parkinson's disease without dementia.
- Alzheimer's disease co-pathology was present in 40% of cases with Lewy body disease.
- GBA1 variant carriers had greater Lewy body burden compared to noncarriers or LRRK2 carriers.
- Pathological diagnoses differed by ancestry, with South Asian donors more likely to have progressive supranuclear palsy and Ashkenazi Jewish donors more likely to have Lewy body disease.
- The findings support integrating genetic and pathological data to improve diagnostic accuracy and guide therapeutic trials.