Genetics, molecular biology, neuropathology and phenotype of frontal lobe dementia: a case history.
BACKGROUND
Mutations in tau have been found in a group of related disorders including the frontal lobe dementias.


OBJECTIVE
To describe the clinical features and molecular pathology changes in a single case of a patient with frontal lobe dementia.


METHODS
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.
Lovestone
Simon
S
Section of Old Age Psychiatry, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK.
Philpot
Michael
M
Connell
James
J
Lantos
Peter
P
Powell
John
J
Russ
Carsten
C
Anderton
Brian
B
D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016875:tau Proteins / Q000235:genetics
D016875:tau Proteins