A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Dallah YooWonjae LeeSeung-Jae LeeJung-Joon SungGye Sun JeonJae-Jun BanChae Won ShinJungho KimHyo Sun KimTae-Beom AhnPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
Clinical and in vitro studies have supported the pathogenic role of the novel TFG mutation in α-synucleinopathy and TDP-43 proteinopathy. These findings expand the phenotypic spectrum of TFG and suggest a pivotal role of endoplasmic reticulum dysfunction during neurodegeneration. © 2021 International Parkinson and Movement Disorder Society.