title: MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).
abstract: We present a 56-year-old patient suffering from frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). The history included a three-generation pedigree and the patient was found to be a mutation carrier. The diagnosis was hindered by late appearance of the hypokinetic movement disorder. For clinicians, it is important to consider rare neurodegenerative disease variants in early-onset familial dementia syndromes with behavioral, cognitive, and motor symptoms.
authors.affiliation: Department of Psychiatry,University Hospital Carl Gustav Carus,Technische Universität Dresden,Dresden,Germany.
authors.forename: Robert
authors.initials: R
authors.lastname: Haussmann
authors.affiliation: Department of Psychiatry,University Hospital Carl Gustav Carus,Technische Universität Dresden,Dresden,Germany.
authors.forename: Marek
authors.initials: M
authors.lastname: Wysocki
authors.affiliation: Department of Neurology,University Hospital Carl Gustav Carus,Technische Universität Dresden,Dresden,Germany.
authors.forename: Moritz D
authors.initials: MD
authors.lastname: Brandt
authors.affiliation: Department of Neurology,University Hospital Carl Gustav Carus,Technische Universität Dresden,Dresden,Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hermann
authors.affiliation: Department of Psychiatry,University Hospital Carl Gustav Carus,Technische Universität Dresden,Dresden,Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Donix
mesh_terms: D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: Parkinson's disease; dementia; frontotemporal dementia; genetics