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BACKGROUND: Mutations in tau have been found in a group of related disorders including the frontal lobe dementias. AIMS: To describe the clinical features and molecular pathology changes in a single case of a patient with frontal lobe dementia. METHOD: A case report was compiled from neuropathological reports and genomic and gene expression analyses. RESULTS: A case with a splice-site mutation resulting in a typical frontotemporal clinical and neuropathological phenotype was found. Gene expression analysis suggests differential expression of isoforms of tau in regions in the brain. CONCLUSIONS; Frontotemporal dementia can result from gene mutations that alter splicing and expression of tau.

Type

Journal article

Journal

Br J Psychiatry

Publication Date

05/2002

Volume

180

Pages

455 - 460

Keywords

Dementia, Female, Humans, Middle Aged, Mutation, Pedigree, Phenotype, tau Proteins