%0 Journal Article %J J Alzheimers Dis %D 2021 %T The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series. %A Ulugut Erkoyun, Hulya %A van der Lee, Sven J %A Nijmeijer, Bas %A van Spaendonk, Rosalina %A Nelissen, Anne %A Scarioni, Marta %A Dijkstra, Anke %A Samancı, Bedia %A Gürvit, Hakan %A Yıldırım, Zerrin %A Tepgeç, Fatih %A Bilgic, Basar %A Barkhof, Frederik %A Rozemuller, Annemieke %A van der Flier, Wiesje M %A Scheltens, Philip %A Cohn-Hokke, Petra %A Pijnenburg, Yolande %K Aphasia, Primary Progressive %K DNA-Binding Proteins %K Female %K Frontotemporal Dementia %K Functional Laterality %K Genetic Testing %K Genetic Variation %K Gyrus Cinguli %K Humans %K Male %K Middle Aged %K Progranulins %K tau Proteins %X

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.

%B J Alzheimers Dis %V 79 %P 1195-1201 %8 2021 %G eng %N 3 %1 https://www.ncbi.nlm.nih.gov/pubmed/33427744?dopt=Abstract %R 10.3233/JAD-201191