期刊论文详细信息
Acta Neuropathologica Communications
Assessment of genetic risk for improved clinical-neuropathological correlations
Chun C. Fan1  Robin G. Jennings2  Barbara E. Spencer2  James B. Brewer2 
[1] Center for Human Development, University of California, San Diego;Department of Neurosciences, University of California, San Diego;
关键词: Alzheimer’s disease;    Dementia with Lewy bodies;    Parkinson’s disease;    Polygenic risk;    Diagnosis;   
DOI  :  10.1186/s40478-020-01033-1
来源: DOAJ
【 摘 要 】

Abstract In the clinical diagnosis of dementia with Lewy bodies, distinction from Alzheimer’s disease is suboptimal and complicated by shared genetic risk factors and frequent co-pathology. In the present study we tested the ability of polygenic scores for Alzheimer’s disease, dementia with Lewy bodies, and Parkinson’s disease to differentiate individuals in a 2713-participant, pathologically defined sample. A dementia with Lewy bodies polygenic score that excluded apolipoprotein E due to its overlap with Alzheimer’s disease risk was specifically associated with at least limbic (transitional) Lewy-related pathology and a pathological diagnosis of dementia with Lewy bodies. An Alzheimer’s disease polygenic score was associated with neuritic plaques and neurofibrillary tangles but not Lewy-related pathology, and was most strongly associated with an Alzheimer’s pathological diagnosis. Our results indicate that an assessment of genetic risk may be useful to clinically distinguish between Alzheimer’s disease and dementia with Lewy bodies. Notably, we found no association with a Parkinson’s disease polygenic score, which aligns with evidence that dementia with Lewy bodies has a distinct genetic signature that can be exploited to improve clinical diagnoses.

【 授权许可】

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