ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2017
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.Acta neuropathologica · 2026Article
- Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium.Neurobiology of aging · 2024Article
- Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia.Journal of the neurological sciences · 2020Article
- Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers.Neurobiology of aging · 2019Article
- Article
- Frontal lobeNeurology · 2019Article
- Recent advances in the genetics of frontotemporal dementia.Current genetic medicine reports · 2019Article
- Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.Brain : a journal of neurology · 2018Article
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4 authors at 1 institution in 1 country.
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Abstract
Mutations in the MAPT gene coding for the tau protein are one of the most common causes of familial frontotemporal dementia (FTD). In a previously described family with the V337M mutation in MAPT, we now report an affected woman who died at age 92 with a >40 year duration of symptoms, more than three times the mean disease duration in her family (13.8 years). Neuropathology showed the typical findings of a diffuse tauopathy. Conversely, her 67-year-old son with the same mutation remains asymptomatic more than 15 years beyond the mean age of onset in the family (51.5 years). These two cases demonstrate the marked variability in onset and duration of familial FTD and underscore the difficulties of discussing these issues with patients and families. The presumed genetic and environmental factors influencing these parameters remain largely unknown. © 2016 Wiley Periodicals, Inc.
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