Genetics, molecular biology, neuropathology and phenotype of frontal lobe dementia: a case history.

Abstract

Mutations in tau have been found in a group of related disorders including the frontal lobe dementias. To describe the clinical features and molecular pathology changes in a single case of a patient with frontal lobe dementia. A case report was compiled from neuropathological reports and genomic and gene expression analyses. 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.