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Chromosome 3 linked frontotemporal dementia (FTD-3)

Gydesen, S; Brown, JM; Brun, Arne LU ; Chakrabarti, L; Gade, A; Johannsen, P; Rossor, M; Thusgaard, T; Grove, A and Yancopoulou, D, et al. (2002) In Neurology 59(10). p.1585-1594
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... (More)
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; H-2 O-15-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. (Less)
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Neurology
volume
59
issue
10
pages
1585 - 1594
publisher
American Academy of Neurology
external identifiers
  • wos:000179370800022
  • pmid:12451202
  • scopus:0037180476
ISSN
1526-632X
language
English
LU publication?
yes
id
8e88a36e-2e27-4440-b36a-da2597ecabb4 (old id 323371)
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http://www.neurology.org/cgi/content/abstract/59/10/1585
date added to LUP
2007-08-22 14:45:39
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2017-10-01 04:48:47
@article{8e88a36e-2e27-4440-b36a-da2597ecabb4,
  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; H-2 O-15-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.},
  author       = {Gydesen, S and Brown, JM and Brun, Arne and Chakrabarti, L and Gade, A and Johannsen, P and Rossor, M and Thusgaard, T and Grove, A and Yancopoulou, D and Spillantini, MG and Fisher, EMC and Collinge, J and Sorensen, SA},
  issn         = {1526-632X},
  language     = {eng},
  number       = {10},
  pages        = {1585--1594},
  publisher    = {American Academy of Neurology},
  series       = {Neurology},
  title        = {Chromosome 3 linked frontotemporal dementia (FTD-3)},
  volume       = {59},
  year         = {2002},
}