title: Genetics, molecular biology, neuropathology and phenotype of frontal lobe dementia: a case history.
abstract: 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.
authors: Section of Old Age Psychiatry, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK.
authors: Simon
authors: S
authors: Lovestone
authors: Michael
authors: M
authors: Philpot
authors: James
authors: J
authors: Connell
authors: Peter
authors: P
authors: Lantos
authors: John
authors: J
authors: Powell
authors: Carsten
authors: C
authors: Russ
authors: Brian
authors: B
authors: Anderton
mesh_terms: D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016875:tau Proteins / Q000235:genetics
chemical_list: D016875:tau Proteins