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

Erkoyun, HU; Van der Lee, SJ; Nijmeijer, B; Spaendonk, RV; Nelissen, A; Scarioni, M; Dijkstra, A; ... Pijnenburg, Y; + view all (2021) The Right Temporal Variant of Frontotemporal Dementia is Not Genetically Sporadic: A Case Series. Journal of Alzheimer's Disease 10.3233/JAD-201191. (In press). Green open access

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Abstract

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.

Type: Article
Title: The Right Temporal Variant of Frontotemporal Dementia is Not Genetically Sporadic: A Case Series
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.3233/JAD-201191
Publisher version: https://doi.org/10.3233/JAD-201191
Language: English
Additional information: Copyright © 2020 – IOS Press and the authors. This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC 4.0).
Keywords: Dementia, GRN, MAPT, TARDBP, frontotemporal dementia, frontotemporal lobar degeneration, genetic, right temporallobe
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Brain Repair and Rehabilitation
URI: https://discovery.ucl.ac.uk/id/eprint/10119874
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