UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Olszewska, DA; Fearon, C; McGuigan, C; McVeigh, TP; Houlden, H; Polke, JM; Lawlor, B; ... Lynch, T; + view all (2021) A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene. Neurobiology of Aging , 106 343.e1-343.e8. 10.1016/j.neurobiolaging.2021.05.010. Green open access

[thumbnail of de Silva_1-s2.0-S0197458021001718-main.pdf]
Preview
Text
de Silva_1-s2.0-S0197458021001718-main.pdf - Published Version

Download (1MB) | Preview

Abstract

We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We describe the clinical spectrum within this family and emphasize the association between MAPT gene variants and motor neuron disease. This report of a second family with FTDP-17 associated with c.823-10G>T MAPT variant strongly supports pathogenicity of the variant and confirms it is a 4-repeat (4R) tauopathy. This intronic point mutation, probably strengthens the polypyrimidine tract and alters the splicing of exon 10 (10 nucleotides into intron 9) close to the 3’ splice site.

Type: Article
Title: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2021.05.010
Publisher version: https://doi.org/10.1016/j.neurobiolaging.2021.05.0...
Language: English
Additional information: © 2021 The Author(s). Published by Elsevier Inc. under a Creative Commons license (https://creativecommons.org/licenses/by/4.0/).
Keywords: c.823-10G>T, intron 9/exon 10 mutation, frontotemporal dementia, genetics, neuropathology
UCL classification: UCL
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 > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > VP: Health
UCL > Provost and Vice Provost Offices > VP: Health > Translational Research Office
URI: https://discovery.ucl.ac.uk/id/eprint/10128753
Downloads since deposit
27Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item