{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T11:40:26Z","timestamp":1788176426211,"version":"build-2803163510"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011878","name":"Flemish Government","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011878","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The missense mutation p.R406W in microtubule-associated protein tau leads to frontotemporal lobar degeneration with an amnestic, Alzheimer\u2019s disease-like phenotype with an autosomal dominant pattern of inheritance. In 2003, we described the pedigree of a Belgian family, labelled ADG, with 28 p.R406W patients. Over 18 years follow-up, we extended the family with 10 p.R406W carriers and provided an in-depth clinical description of the patients. Additionally, genetic screening was used to identify p.R406W carriers in Belgian cohorts of frontotemporal dementia and Alzheimer\u2019s disease patients and to calculate p.R406W frequency. In the frontotemporal dementia cohort, we found four p.R406W carriers (n = 647, 0.62%) and three in the Alzheimer\u2019s disease cohort (n = 1134, 0.26%). Haplotype sharing analysis showed evidence of a shared haplotype suggesting that they are descendants of a common ancestor. Of the p.R406W patients, we describe characteristics of neuropsychological, imaging and fluid biomarkers as well as neuropathologic examination. Intriguingly, the phenotypic spectrum among the p.R406W patients ranged from typical behavioural variant frontotemporal dementia to clinical Alzheimer\u2019s disease, based on CSF biomarker analysis and amyloid PET scan. Heterogeneous overlap syndromes existed in between, with highly common neuropsychiatric symptoms like disinhibition and aggressiveness, which occurred in 100% of frontotemporal dementia and 58% of clinical Alzheimer\u2019s disease patients. This was also the case for memory problems, 89% in frontotemporal dementia and 100% in clinical Alzheimer\u2019s disease patients. Median age at death was significantly lower in patients with frontotemporal dementia (68 years) compared to clinical Alzheimer\u2019s disease patients (79 years), although the sizes of the sub-cohorts are limited and do not allow prognostic predictions. Post-mortem brain analysis of one p.R406W patient with behavioural variant frontotemporal dementia revealed frontotemporal lobar degeneration with tau pathology. Notably, neuropathological investigation showed only 3R tau isoforms in the absence of 4R tau reactivity, an unusual finding in microtubule-associated protein tau-related frontotemporal lobar degeneration. No traces of amyloid pathology were present. Prevalence of the p.R406W mutation was relatively high in both frontotemporal dementia and Alzheimer\u2019s disease Belgian patient cohorts. These findings grant new insights into genotype\u2013phenotype correlations of p.R406W carriers. They may help in further unravelling of the pathophysiology of this tauopathy and in facilitating the identification of patients with p.R406W-related frontotemporal lobar degeneration, both in clinical diagnostic and research settings.<\/jats:p>","DOI":"10.1093\/brain\/awac362","type":"journal-article","created":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T04:51:30Z","timestamp":1664427090000},"page":"1624-1636","source":"Crossref","is-referenced-by-count":10,"title":["Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum"],"prefix":"10.1093","volume":"146","author":[{"given":"Helena","family":"Gossye","sequence":"first","affiliation":[{"name":"VIB Center for Molecular Neurology , 2610 Antwerp , Belgium"},{"name":"Department of Neurology, University Hospital Antwerp , 2650 Edegem , Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp , 2610 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Van Mossevelde","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Antwerp , 2650 Edegem , Belgium"},{"name":"Institute Born-Bunge , 2610 Antwerp , Belgium"},{"name":"Department of Neurology and Memory Clinic, Hospital Network Antwerp , 2000 Antwerp , Belgium"},{"name":"Department of Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp , 2610 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Sieben","sequence":"additional","affiliation":[{"name":"Institute Born-Bunge , 2610 Antwerp , Belgium"},{"name":"Department of Anatomopathology, University Hospital Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bjerke","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Antwerp , 2610 Antwerp , Belgium"},{"name":"Department of Clinical Chemistry, Universitair Ziekenhuis Brussel and Center for Neurosciences, Vrije Universiteit Brussel , 1000 Brussel , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Hendrickx Van de Craen","sequence":"additional","affiliation":[{"name":"VIB Center for Molecular Neurology , 2610 Antwerp , Belgium"},{"name":"Department of Neurology, University Hospital Antwerp , 2650 Edegem , Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp , 2610 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"van der Zee","sequence":"additional","affiliation":[{"name":"VIB Center for Molecular Neurology , 2610 Antwerp , Belgium"},{"name":"Department of Biomedical Sciences, University of Antwerp , 2610 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter P","family":"De Deyn","sequence":"additional","affiliation":[{"name":"Institute Born-Bunge , 2610 Antwerp , Belgium"},{"name":"Department of Neurology and Alzheimer Center, University of Groningen , 9713 Groningen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"De Bleecker","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Ghent , 9000 Gent , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Versijpt","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universitair Ziekenhuis Brussel and Center for Neurosciences, Vrije Universiteit Brussel , 1000 Brussel , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenneke","family":"van den Ende","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Deryck","sequence":"additional","affiliation":[{"name":"Department of Neurology, General Hospital Sint-Jan , 8000 Brugge , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Bourgeois","sequence":"additional","affiliation":[{"name":"Department of Neurology, General Hospital Groeninge , 8500 Kortrijk , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Bier","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus Hospital, University Clinics of Brussels , 1000 Brussel , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten","family":"Goethals","sequence":"additional","affiliation":[{"name":"Department of Neurology, General Hospital Delta , 8800 Roeselare , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6237-2502","authenticated-orcid":false,"given":"Rik","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Laboratory for Cognitive Neurology, Department of Neurosciences, University Hospital and University of Leuven , 3000 Leuven , Belgium"},{"name":"Neurology Service, University Hospitals Leuven , 3000 Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0304-9785","authenticated-orcid":false,"given":"Sebastiaan","family":"Engelborghs","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Antwerp , 2610 Antwerp , Belgium"},{"name":"Department of Neurology, Universitair Ziekenhuis Brussel and Center for Neurosciences, Vrije Universiteit Brussel , 1000 Brussel , 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