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Updated: Oct 1, 2026

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Published on: June 3, 2020
Genetics, molecular biology, neuropathology and phenotype of frontal lobe dementia: a case history
Simon Lovestone1, Michael Philpot, James Connell
1Section of Old Age Psychiatry, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK.
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.
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