title: Chromosome 3 linked frontotemporal dementia (FTD-3).
abstract: BACKGROUND
  The authors have identified and studied a large kindred in which frontotemporal dementia (FTD) is inherited as an autosomal dominant trait. The trait has been mapped to the pericentromeric region of chromosome 3.
  
  
  METHODS
  The authors report on the clinical, neuroimaging, neuropsychological, and pathologic features in this unique pedigree collected during 17 years of study.
  
  
  RESULTS
  Twenty-two individuals in three generations have been affected; the age at onset varies between 46 and 65 years. The disease presents with a predominantly frontal lobe syndrome but there is also evidence for temporal and dominant parietal lobe dysfunction. Late in the illness individuals develop a florid motor syndrome with pyramidal and extrapyramidal features. Structural imaging reveals generalized cerebral atrophy; H2 15 O-PET scanning in two individuals relatively early and late in the disease shows a striking global reduction in cerebral blood flow affecting all lobes. On macroscopic pathologic examination, there is generalized cerebral atrophy affecting the frontal lobes preferentially. Microscopically, there is neuronal loss and gliosis without specific histopathologic features.
  
  
  CONCLUSIONS
  FTD-3 shares clinical and pathologic features with other forms of FTD and fulfills international consensus criteria for FTD. There is involvement of the parietal lobes clinically, radiologically, and pathologically in FTD-3 in contrast to some forms of FTD. This more diffuse involvement of the cerebral cortex leads to a distinctive, global pattern of reduced blood flow on PET scanning.
authors.affiliation: Frontotemporal Dementia Research in Jutland Association (FreJA), Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Gydesen
authors.forename: J M
authors.initials: JM
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Brun
authors.forename: L
authors.initials: L
authors.lastname: Chakrabarti
authors.forename: A
authors.initials: A
authors.lastname: Gade
authors.forename: P
authors.initials: P
authors.lastname: Johannsen
authors.forename: M
authors.initials: M
authors.lastname: Rossor
authors.forename: T
authors.initials: T
authors.lastname: Thusgaard
authors.forename: A
authors.initials: A
authors.lastname: Grove
authors.forename: D
authors.initials: D
authors.lastname: Yancopoulou
authors.forename: M G
authors.initials: MG
authors.lastname: Spillantini
authors.forename: E M C
authors.initials: EM
authors.lastname: Fisher
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: S A
authors.initials: SA
authors.lastname: Sorensen
mesh_terms: D001344:Autopsy; D001921:Brain / Q000473:pathology; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004396:Coloring Agents; D003704:Dementia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003718:Denmark; D005260:Female; D005625:Frontal Lobe; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D009929:Organ Size; D010375:Pedigree; D013702:Temporal Lobe; D016707:Tissue Fixation; D014055:Tomography, Emission-Computed; D014057:Tomography, X-Ray Computed
chemical_list: D004396:Coloring Agents