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

Psychiatry

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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
DOIs	https://doi.org/10.1080/13554794.2021.1905855
Publication status	Published - Apr 2021

Keywords

Fluorodeoxyglucose F18
Frontotemporal Dementia
Humans
Magnetic Resonance Imaging
Neuroimaging
Phenotype

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10.1080/13554794.2021.1905855Licence: CC BY-NC-ND

The bvFTD phenocopy syndrome a case study supported by repeated MRI 18F FDG PET and pathological assessmentFinal published version, 2.72 MBLicence: CC BY-NC-ND

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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 = "Fluorodeoxyglucose F18, Frontotemporal Dementia, Humans, Magnetic Resonance Imaging, Neuroimaging, Phenotype",

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}",

note = "Publisher Copyright: {\textcopyright} 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.",

year = "2021",

month = apr,

doi = "10.1080/13554794.2021.1905855",

language = "English",

volume = "27",

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van Engelen, M-PE, 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

AU - Dols, Annemieke

AU - Barkhof, Frederik

AU - Berckel, Bart N M Van

AU - Scheltens, Philip

AU - Brain Bank, Netherlands

AU - Pijnenburg, Yolande A L

PY - 2021/4

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AB - 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.

KW - Fluorodeoxyglucose F18

KW - Frontotemporal Dementia

KW - Humans

KW - Magnetic Resonance Imaging

KW - Neuroimaging

KW - Phenotype

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DO - 10.1080/13554794.2021.1905855

M3 - Article

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SP - 181

EP - 189

JO - Neurocase

JF - Neurocase

IS - 2

ER -

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

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Keywords

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