title: Clinical and molecular aspects of frontotemporal dementia.
abstract: Frontotemporal dementia (FTD) is a neurodegenerative disease and next to Alzheimer's disease and vascular dementia, the third most common cause of early-onset progressive dementia. FTD leads to neurodegeneration in the frontal and temporal neocortex and usually encompasses both sides of the frontal and anterior temporal lobes. Psychologically, FTD is characterized by personality changes such as lack of insight, inappropriate behaviour, disinhibition, apathy, executive disabilities and a decline in cognitive functions, with large clinical and neuropathological variations among cases. Neuropathological characteristics include gliosis or microvacuolation of cortical nerve cells. Inclusions staining for tau protein and/or ubiquitin are also common findings. Both sporadic and hereditary forms of FTD have been identified and 30-50% of the FTD cases have a familial background. So far, at least three genetic loci for FTD have been identified, at human chromosomes 3, 9 and 17 in familial forms of the disease. A large number of the familial forms have been linked to chromosome 17q21 and referred to as frontotemporal dementia and Parkinsonism linked to chromosome 17. In the majority of these families, pathogenic mutations in the tau gene were identified. However, tau mutations seem to be a rare cause of disease in the general FTD population. Thus, other genes and/or environmental factors are yet to be identified, which will give further clues to this complex and heterogeneous disorder.
authors.affiliation: Department of Public Health and Caring Science, Division of Geriatrics, Uppsala University, Uppsala, Sweden.
authors.forename: Susanne
authors.initials: S
authors.lastname: Froelich-Fabre
authors.forename: Lena
authors.initials: L
authors.lastname: Skoglund
authors.forename: Jovanka
authors.initials: J
authors.lastname: Ostojic
authors.forename: Lena
authors.initials: L
authors.lastname: Kilander
authors.forename: Maria
authors.initials: M
authors.lastname: Lindau
authors.forename: Anna
authors.initials: A
authors.lastname: Glaser
authors.forename: Hans
authors.initials: H
authors.lastname: Basun
authors.forename: Lars
authors.initials: L
authors.lastname: Lannfelt
mesh_terms: D003704:Dementia / Q000378:metabolism* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D009154:Mutation / Q000502:physiology; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D016875:tau Proteins