dc.contributor.author | Olszewska, DA | |
dc.contributor.author | Fearon, C | |
dc.contributor.author | McGuigan, C | |
dc.contributor.author | McVeigh, TP | |
dc.contributor.author | Houlden, H | |
dc.contributor.author | Polke, JM | |
dc.contributor.author | Lawlor, B | |
dc.contributor.author | Coen, R | |
dc.contributor.author | Hutchinson, M | |
dc.contributor.author | Hutton, M | |
dc.contributor.author | Beausang, A | |
dc.contributor.author | Delon, I | |
dc.contributor.author | Brett, F | |
dc.contributor.author | Sevastou, I | |
dc.contributor.author | Seto-Salvia, N | |
dc.contributor.author | de Silva, R | |
dc.contributor.author | Lynch, T | |
dc.date.accessioned | 2021-07-09T09:52:05Z | |
dc.date.available | 2021-07-09T09:52:05Z | |
dc.date.issued | 2021-10-01 | |
dc.identifier.citation | Neurobiology of Aging, 2021 | |
dc.identifier.issn | 0197-4580 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/4674 | |
dc.identifier.doi | 10.1016/j.neurobiolaging.2021.05.010 | |
dc.description.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. | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | ELSEVIER SCIENCE INC | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.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. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2021-05-13 | |
rioxxterms.version | AM | |
rioxxterms.versionofrecord | 10.1016/j.neurobiolaging.2021.05.010 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Neurobiology of Aging | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/Royal Marsden Clinical Units | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/Royal Marsden Clinical Units | |
pubs.publication-status | Published | |
pubs.embargo.terms | Not known | |
dc.contributor.icrauthor | McVeigh, Terri | |