title: Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual.
abstract: Frontotemporal dementia (FTD) is a clinically heterogeneous disorder characterized by alterations in language and/or behavior, often in association with Parkinsonism or motor neuron disease. A familial form of FTD is associated with mutations in the microtubule-associated protein tau (MAPT) gene. We report here on the clinical, neuroimaging, cerebral spinal fluid biomarker, genetic, biochemical and postmortem neuropathological analyses of a case of familial FTD with a Leu266Val MAPT mutation which results in a very early age of onset and a rapid course of disease. This is also the first reported case of any MAPT mutation in an individual of African American ethnicity.
authors.affiliation: Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research and Institute on Aging, University of Pennsylvania, 3600 Spruce St., 3 Maloney Bldg., Philadelphia, PA, 19104, USA. vivianna@mail.med.upenn.edu
authors.forename: Vivianna M
authors.initials: VM
authors.lastname: Van Deerlin
authors.forename: Mark S
authors.initials: MS
authors.lastname: Forman
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Farmer
authors.forename: Murray
authors.initials: M
authors.lastname: Grossman
authors.forename: Sonali
authors.initials: S
authors.lastname: Joyce
authors.forename: Alex
authors.initials: A
authors.lastname: Crowe
authors.forename: John Q
authors.initials: JQ
authors.lastname: Trojanowski
authors.forename: Virginia M-Y
authors.initials: VM
authors.lastname: Lee
authors.forename: Anjan
authors.initials: A
authors.lastname: Chatterjee
mesh_terms: D000328:Adult; D001741:Black or African American / Q000208:ethnology; D004268:DNA-Binding Proteins / Q000378:metabolism; D003704:Dementia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009483:Neuropsychological Tests; D063146:Polycomb-Group Proteins; D014157:Transcription Factors / Q000378:metabolism; D014633:Valine / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C112309:PHF1 protein, human; D063146:Polycomb-Group Proteins; D014157:Transcription Factors; D016875:tau Proteins; D007930:Leucine; D014633:Valine