Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy.

doi:10.1186/s40478-020-01050-0

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Article

Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy.

Acta neuropathologica communications - 22 Oct 2020

Strickland Samantha L, Morel Hélène, Prusinski Christian, Allen Mariet, Patel Tulsi A, Carrasquillo Minerva M, Conway Olivia J, Lincoln Sarah J, Reddy Joseph S, Nguyen Thuy, Malphrus Kimberly G, Soto Alexandra I, Walton Ronald L, Crook Julia E, Murray Melissa E, Boeve Bradley F, Petersen Ronald C, Lucas John A, Ferman Tanis J, Uitti Ryan J, Wszolek Zbigniew K, Ross Owen A, Graff-Radford Neill R, Dickson Dennis W, Ertekin-Taner Nilüfer

Abstract excerpt

Missense variants ABI3_rs616338-T and PLCG2_rs72824905-G were previously associated with elevated or reduced risk of Alzheimer's disease (AD), respectively. Despite reports of associations with other neurodegenerative diseases, there are few studies of these variants in purely neuropathologically diagnosed cohorts. Further, the effect of these mutations on neurodegenerative disease pathologies is unknown. In this...

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PMID: 33092647
DOI: 10.1186/s40478-020-01050-0
PMCID: PMC7579984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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