The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [18F]FDG-PET and pathological assessment

Marie Paule E. van Engelen; Annemieke 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; Bart N.M.Van Berckel; Philip Scheltens; Netherlands Brain Bank; Yolande A.L. Pijnenburg

doi:10.1080/13554794.2021.1905855

The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [¹⁸F]FDG-PET and pathological assessment

Marie Paule E. van Engelen, Annemieke 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, Bart N.M.Van Berckel, Philip Scheltens, Netherlands Brain Bank, Yolande A.L. Pijnenburg

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	181-189
Number of pages	9
Journal	Neurocase
Volume	27
Issue number	2
Early online date	2021
DOIs	https://doi.org/10.1080/13554794.2021.1905855
Publication status	Published - 2021

Subject classification (UKÄ)

Neurology

Free keywords

Behavioral variant frontotemporal dementia
diagnostic distinction of bvFTD and primary psychiatric diseases
misdiagnosis
neuropsychiatry
phenocopy syndrome

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10.1080/13554794.2021.1905855Licence: CC BY-NC-ND

Cite this

van Engelen, M. P. E., Rozemuller, A. J. M., Ulugut Erkoyun, H., Groot, C., Fieldhouse, J. L. P., Koene, T., Ossenkoppele, R., Gossink, F. T., Krudop, W. A., Vijverberg, E. G. B., Dols, A., Barkhof, F., Berckel, B. N. M. V., Scheltens, P., Brain Bank, N., & Pijnenburg, Y. A. L. (2021). The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [¹⁸F]FDG-PET and pathological assessment. Neurocase, 27(2), 181-189. https://doi.org/10.1080/13554794.2021.1905855

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title = "The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [18F]FDG-PET and pathological assessment",

abstract = "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.",

keywords = "Behavioral variant frontotemporal dementia, diagnostic distinction of bvFTD and primary psychiatric diseases, misdiagnosis, neuropsychiatry, phenocopy syndrome",

author = "{van Engelen}, {Marie Paule E.} and Rozemuller, {Annemieke J.M.} and {Ulugut Erkoyun}, H{\"u}lya and Colin Groot and Fieldhouse, {Jay L.P.} and Ted Koene and Rik Ossenkoppele and Gossink, {Flora T.} and Krudop, {Welmoed A.} and Vijverberg, {Everard G.B.} and Annemieke Dols and Frederik Barkhof and Berckel, {Bart N.M.Van} and Philip Scheltens and {Brain Bank}, Netherlands and Pijnenburg, {Yolande A.L.}",

year = "2021",

doi = "10.1080/13554794.2021.1905855",

language = "English",

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van Engelen, MPE, Rozemuller, AJM, Ulugut Erkoyun, H, Groot, C, Fieldhouse, JLP, Koene, T, Ossenkoppele, R, Gossink, FT, Krudop, WA, Vijverberg, EGB, Dols, A, Barkhof, F, Berckel, BNMV, Scheltens, P, Brain Bank, N & Pijnenburg, YAL 2021, 'The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [¹⁸F]FDG-PET and pathological assessment', Neurocase, vol. 27, no. 2, pp. 181-189. https://doi.org/10.1080/13554794.2021.1905855

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AU - van Engelen, Marie Paule E.

AU - Rozemuller, Annemieke J.M.

AU - Ulugut Erkoyun, Hülya

AU - Groot, Colin

AU - Fieldhouse, Jay L.P.

AU - Koene, Ted

AU - Ossenkoppele, Rik

AU - Gossink, Flora T.

AU - Krudop, Welmoed A.

AU - Vijverberg, Everard G.B.

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AU - Barkhof, Frederik

AU - Berckel, Bart N.M.Van

AU - Scheltens, Philip

AU - Brain Bank, Netherlands

AU - Pijnenburg, Yolande A.L.

PY - 2021

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KW - Behavioral variant frontotemporal dementia

KW - diagnostic distinction of bvFTD and primary psychiatric diseases

KW - misdiagnosis

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