title: Familial presenile dementia with bitemporal atrophy.
abstract: This study describes the clinical, neuropsychological, neuroimaging and genetic characteristics in two generations of a Swedish family affected by presenile dementia. The pedigree includes 5 cases (mother and 4 of 5 children) of progressive dementia with onset between 54 and 62 years. The clinical picture is characterized by insidious onset and progressive decline in episodic memory without spatial impairment or dyspraxia, followed by changes in personality and behaviour, with signs of disinhibition, irritability, impulsivity and loss of social awareness. Three siblings, examined after 10 years of duration, showed moderate language deficits but preserved spatial function and praxis. CT and MRI showed progressive bilateral temporal atrophy and moderate frontal white matter changes. Regional cerebral blood flow measurements showed hypoperfusion in temporal areas bilaterally. Quantitative EEG was normal within 5 years after symptom onset and thereafter showed a moderate increase in relative theta power. Sequencing of the tau gene (chromosome 17) revealed the previously described R406W mutation in exon 13 as a likely cause of the disease. This mutation was identified in all affected cases. The clinical picture of this family shows striking similarities not only to frontotemporal dementia but also to Alzheimer's disease.
authors.affiliation: Department of Psychogeriatrics, Lund University Hospital, Lund, Sweden. ulla.passant@skane.se
authors.forename: Ulla
authors.initials: U
authors.lastname: Passant
authors.forename: Jovanka
authors.initials: J
authors.lastname: Ostojic
authors.forename: Susanne
authors.initials: S
authors.lastname: Froelich Fabre
authors.forename: Lars
authors.initials: L
authors.lastname: Gustafson
authors.forename: Lars
authors.initials: L
authors.lastname: Lannfelt
authors.forename: Elna-Marie
authors.initials: EM
authors.lastname: Larsson
authors.forename: Karin
authors.initials: K
authors.lastname: Nilsson
authors.forename: Ingmar
authors.initials: I
authors.lastname: Rosén
authors.forename: Christina
authors.initials: C
authors.lastname: Elfgren
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D001284:Atrophy; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008569:Memory Disorders / Q000209:etiology; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D013702:Temporal Lobe / Q000000981:diagnostic imaging / Q000473:pathology*; D015899:Tomography, Emission-Computed, Single-Photon