Genetics Contributes to Concomitant Pathology and Clinical Presentation in Dementia with Lewy Bodies.

ABSTRACT:

Background

Dementia with Lewy bodies (DLB) is a complex, progressive neurodegenerative disease with considerable phenotypic, pathological, and genetic heterogeneity.

Objective

We tested if genetic variants in part explain the heterogeneity in DLB.

Methods

We tested the effects of variants previously associated with DLB (near APOE, GBA, and SNCA) and polygenic risk scores for Alzheimer's disease (AD-PRS) and Parkinson's disease (PD-PRS). We studied 190 probable DLB patients from the Alzheimer's dementia cohort and compared them to 2,552 control subjects. The p-tau/Aβ1-42 ratio in cerebrospinal fluid was used as in vivo proxy to separate DLB cases into DLB with concomitant AD pathology (DLB-AD) or DLB without AD (DLB-pure). We studied the clinical measures age, Mini-Men

SUBMITTER: van der Lee SJ 

PROVIDER: S-EPMC8461715 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature