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The bvFTD phenocopy syndrome

Publication year 2021
Published in Neurocase
Authors Marie-Paule E van Engelen, A.J.M. Rozemuller, Hülya Ulugut Erkoyun, Colin Groot, Jay L P Fieldhouse, Ted Koene, Rik Ossenkoppele, Flora T Gossink, Welmoed A Krudop, Everard G B Vijverberg, Annemieke Dols, Frederik Barkhof, B.N.M. Van Berckel, Philip Scheltens, Yolande A L Pijnenburg

A clinical syndrome with neuropsychiatric features of bvFTD without neuroimaging abnormalities and a lack of decline is a phenocopy of bvFTD (phFTD). Growing evidence suggests that psychological, psychiatric and environmental factors underlie phFTD. We describe a patient diagnosed with bvFTD prior to the revision of the diagnostic guidelines of FTD. Repeated neuroimaging was normal and there was no FTD pathology at autopsy, rejecting the diagnosis. We hypothesize on etiological factors that on hindsight might have played a role. This case report contributes to the understanding of phFTD and adds to the sparse literature of the postmortem assessment of phFTD.

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