The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series

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 b...

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Published inJournal of Alzheimer's disease Vol. 79; no. 3; p. 1195
Main Authors Ulugut Erkoyun, Hulya, van der Lee, Sven J, Nijmeijer, Bas, van Spaendonk, Rosalina, Nelissen, Anne, Scarioni, Marta, Dijkstra, Anke, Samancı, Bedia, Gürvit, Hakan, Yıldırım, Zerrin, Tepgeç, Fatih, Bilgic, Basar, Barkhof, Frederik, Rozemuller, Annemieke, van der Flier, Wiesje M, Scheltens, Philip, Cohn-Hokke, Petra, Pijnenburg, Yolande
Format Journal Article
LanguageEnglish
Published Netherlands 01.01.2021
Subjects
genetic
GRN
right temporallobe
frontotemporal dementia
MAPT
TARDBP
frontotemporal lobar degeneration
Dementia
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Summary: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. 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. 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. 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. 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.
ISSN:1875-8908
DOI:10.3233/JAD-201191