Ronald L Walton, Shunsuke Koga, Alexandra I Beasley, Launia J White, Teresa Griesacker, Melissa E Murray, Koji Kasanuki, Xu Hou, Fabienne C Fiesel, Wolfdieter Springer, Ryan J Uitti, Julie A Fields, Hugo Botha, Vijay K Ramanan, Kejal Kantarci, Val J Lowe, Clifford R Jack, Nilufer Ertekin-Taner, Rodolfo Savica, Jonathan Graff-Radford, Ronald C Petersen, Joseph E Parisi, R Ross Reichard, Neill R Graff-Radford, Tanis J Ferman, Bradley F Boeve, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross, Michael G Heckman
Rare and common GBA variants are risk factors for both Parkinson's disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA variants are associated with neuropathological features in Lewy body disease (LBD) is unknown. Herein, we assessed 943 LBD cases and examined associations of 15 different neuropathological outcomes with common and rare GBA variants. Neuropathological outcomes included LBD subtype, presence of a high likelihood of clinical DLB (per consensus guidelines), LB counts in five cortical regions, tyrosine hydroxylase immunoreactivity in the dorsolateral and ventromedial putamen, ventrolateral substantia nigra neuronal loss, Braak neurofibrillary tangle (NFT) stage, Thal amyloid phase, phospho-ubiquitin (pS65-Ub) level, TDP-43 pathology, and vascular disease...
March 12, 2024: Acta Neuropathologica