TY - JOUR
T1 - The right temporal variant of frontotemporal dementia is not genetically sporadic: A case series
T2 - A Case Series
AU - Erkoyun, Hulya Ulugut
AU - van der Lee, Sven J.
AU - Nijmeijer, Bas
AU - van Spaendonk, Rosalina
AU - Nelissen, Anne
AU - Scarioni, Marta
AU - Dijkstra, Anke
AU - Samancı, Bedia
AU - Gürvit, Hakan
AU - Yıldırım, Zerrin
AU - Tepgeç, Fatih
AU - Bilgic, Basar
AU - Barkhof, Frederik
AU - Rozemuller, Annemieke
AU - van der Flier, Wiesje M.
AU - Scheltens, Philip
AU - Cohn-Hokke, Petra
AU - Pijnenburg, Yolande
N1 - Funding Information: We are very grateful for the generous contribution of the patients and their relatives. Research of the Alzheimer Center Amsterdam is part of the neu-rodegeneration research program of Amsterdam Neuroscience. The Alzheimer Center Amsterdam is supported by Stichting Alzheimer Nederland and Stichting VUmc fonds. WF holds the Pasman chair. Dr. HUE has received research support from the Turkish Neurological Society. FB is supported by the NIHR biomedical research center at UCLH. Funding Information: We are very grateful for the generous contribution of the patients and their relatives. Research of the Alzheimer Center Amsterdam is part of the neurodegeneration research program of Amsterdam Neuroscience. The Alzheimer Center Amsterdam is supported by Stichting Alzheimer Nederland and Stichting VUmc fonds. WF holds the Pasman chair. Dr. HUE has received research support from the Turkish Neurological Society. FB is supported by the NIHR biomedical research center at UCLH. Publisher Copyright: © 2021 - IOS Press. All rights reserved. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021
Y1 - 2021
N2 - Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally considered as a right sided variant of semantic variant primary progressive aphasia (svPPA), which is a genetically sporadic disorder. Recently, we have shown that rtvFTD has a unique clinical syndrome compared to svPPA and behavioral variant frontotemporal dementia. Objective: We challenge the assumption that rtvFTD is a sporadic, non-familial variant of FTD by identifying potential autosomal dominant inheritance and related genes in rtvFTD. Methods: We collected all subjects with a diagnosis of FTD or primary progressive aphasia who had undergone genetic screening (n = 284) and subsequently who had a genetic variant (n = 48) with a diagnosis of rtvFTD (n = 6) in 2 specialized memory clinics. Results: Genetic variants in FTD related genes were found in 33% of genetically screened rtvFTD cases; including MAPT (n = 4), GRN (n = 1), and TARDBP (n = 1) genes, whereas only one svPPA case had a genetic variant in our combined cohorts. Additionally, 4 out of 6 rtvFTD subjects had a strong family history for dementia. Conclusion: Our results demonstrate that rtvFTD, unlike svPPA, is not a pure sporadic, but a heterogeneous potential genetic variant of FTD, and screening for genetic causes for FTD should be performed in patients with rtvFTD.
AB - Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally considered as a right sided variant of semantic variant primary progressive aphasia (svPPA), which is a genetically sporadic disorder. Recently, we have shown that rtvFTD has a unique clinical syndrome compared to svPPA and behavioral variant frontotemporal dementia. Objective: We challenge the assumption that rtvFTD is a sporadic, non-familial variant of FTD by identifying potential autosomal dominant inheritance and related genes in rtvFTD. Methods: We collected all subjects with a diagnosis of FTD or primary progressive aphasia who had undergone genetic screening (n = 284) and subsequently who had a genetic variant (n = 48) with a diagnosis of rtvFTD (n = 6) in 2 specialized memory clinics. Results: Genetic variants in FTD related genes were found in 33% of genetically screened rtvFTD cases; including MAPT (n = 4), GRN (n = 1), and TARDBP (n = 1) genes, whereas only one svPPA case had a genetic variant in our combined cohorts. Additionally, 4 out of 6 rtvFTD subjects had a strong family history for dementia. Conclusion: Our results demonstrate that rtvFTD, unlike svPPA, is not a pure sporadic, but a heterogeneous potential genetic variant of FTD, and screening for genetic causes for FTD should be performed in patients with rtvFTD.
KW - Dementia
KW - Frontotemporal dementia
KW - Frontotemporal lobar degeneration
KW - GRN
KW - Genetic
KW - MAPT
KW - Right temporal lobe
KW - TARDBP
UR - http://www.scopus.com/inward/record.url?scp=85100552383&partnerID=8YFLogxK
U2 - https://doi.org/10.3233/JAD-201191
DO - https://doi.org/10.3233/JAD-201191
M3 - Article
C2 - 33427744
SN - 1387-2877
VL - 79
SP - 1195
EP - 1201
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
IS - 3
ER -