title: Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
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.
authors.affiliation: Department of Neurology, University of Washington, Seattle, Washington.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Domoto-Reilly
authors.affiliation: Department of Neurology, University of Washington, Seattle, Washington.
authors.forename: Marie Y
authors.initials: MY
authors.lastname: Davis
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington.
authors.forename: C Dirk
authors.initials: CD
authors.lastname: Keene
authors.affiliation: Department of Neurology, University of Washington, Seattle, Washington.|Department of Medicine, University of Washington, Seattle, Washington.|VA Puget Sound Health Care System, Geriatric Research Education and Clinical Center, Seattle, Washington.
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Bird
mesh_terms: D000368:Aged; D003704:Dementia / Q000235:genetics; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000523:psychology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: MAPT; dementia; frontotemporal dementia; penetrance; tau