The right temporal variant of frontotemporal dementia is not genetically sporadic: A case series

Hulya Ulugut Erkoyun*, Sven J. van der Lee, Bas Nijmeijer, Rosalina van Spaendonk, Anne Nelissen, Marta Scarioni, Anke Dijkstra, Bedia Samancı, Hakan Gürvit, Zerrin Yıldırım, Fatih Tepgeç, Basar Bilgic, Frederik Barkhof, Annemieke Rozemuller, Wiesje M. van der Flier, Philip Scheltens, Petra Cohn-Hokke, Yolande Pijnenburg

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)1195-1201
Number of pages7
JournalJournal of Alzheimer's Disease
Issue number3
Publication statusPublished - 2021

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