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.