Article
Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R.
Neurobiology of disease - 1 Dec 2020
Sandberg Alexander, Ling Helen, Gearing Marla, Dombroski Beth, Cantwell Laura, R'Bibo Lea, Levey Allan, Schellenberg Gerard D, Hardy John, Wood Nicholas, Fernius Josefin, Nyström Sofie, Svensson Samuel, Thor Stefan, Hammarström Per, Revesz Tamas, Mok Kin Y
Abstract excerpt
Microtubule Associated Protein Tau (MAPT) forms proteopathic aggregates in several diseases. The G273R tau mutation, located in the first repeat region, was found by exome sequencing in a patient who presented with dementia and parkinsonism. We herein return to pathological examination which demonstrated tau immunoreactivity in neurons and glia consistent of mixed progressive supranuclear palsy (PSP) and...
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