Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy
Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy
Abstract The genetic basis of variation in the rate of disease progression of primary tauopathies has not been determined. In two independent progressive supranuclear palsy cohorts, we show that common variation at the LRRK2 locus determines survival from motor symptom onset to death, possibly through regulation of gene expression. This links together genetic risk in alpha-synuclein and tau disorders, and suggests that modulation of proteostasis and neuro-inflammation by LRRK2 inhibitors may have a therapeutic role across disorders.
Shoai Maryam、Morris Huw R.、Holton Janice L.、Lees Andrew J.、Gibbs J. Raphael、Ding Jinhui、Traynor Bryan J.、Scholz Sonja W.、Pantelyat Alexander、Dalgard Clifton L.、Troncoso Juan C.、Warner Thomas T.、Reynolds Regina H.、Mok Kin Y.、Murphy David P.、Dickson Dennis W.、Al-Sarraj Safa、Gentleman Steve M.、Allinson Kieren S.J.、Respondek Gesine、Kobylecki Christopher、Leigh P. Nigel、Boxer Adam L.、Cookson Mark R.、Pletnikova Olga、Viollet Coralie、Chia Ruth、Jabbari Edwin、Ross Owen A.、H?glinger G¨1nter U.、Ferrari Raffaele、Tan Manuela M.X.、Valentino Rebecca R.、Hardy John、Rowe James B.、Ryten Mina、Church Alistair、Revesz Tamas、Gerhard Alexander、Jaunmuktane Zane、Hu Michele T.M.、Burn David J.、Pavese Nicola
神经病学、精神病学基础医学遗传学
Shoai Maryam,Morris Huw R.,Holton Janice L.,Lees Andrew J.,Gibbs J. Raphael,Ding Jinhui,Traynor Bryan J.,Scholz Sonja W.,Pantelyat Alexander,Dalgard Clifton L.,Troncoso Juan C.,Warner Thomas T.,Reynolds Regina H.,Mok Kin Y.,Murphy David P.,Dickson Dennis W.,Al-Sarraj Safa,Gentleman Steve M.,Allinson Kieren S.J.,Respondek Gesine,Kobylecki Christopher,Leigh P. Nigel,Boxer Adam L.,Cookson Mark R.,Pletnikova Olga,Viollet Coralie,Chia Ruth,Jabbari Edwin,Ross Owen A.,H?glinger G¨1nter U.,Ferrari Raffaele,Tan Manuela M.X.,Valentino Rebecca R.,Hardy John,Rowe James B.,Ryten Mina,Church Alistair,Revesz Tamas,Gerhard Alexander,Jaunmuktane Zane,Hu Michele T.M.,Burn David J.,Pavese Nicola.Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy[EB/OL].(2025-03-28)[2025-04-26].https://www.biorxiv.org/content/10.1101/2020.02.04.932335.点此复制
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