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The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

Ostojic, J ; Elfgren, Christina LU orcid ; Passant, Ulla LU ; Nilsson, Karin LU ; Gustafson, Lars LU ; Lannfelt, L and Fabre, SF (2004) Frontotemporal Dementias. 4th International Conference In Dementia and Geriatric Cognitive Disorders 17(4). p.298-301
Abstract
Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism linked to chromosome 17 (FTDP-17). In the present study, a Swedish family with presenile degenerative dementia with bitemporal atrophy was screened for mutations in the tau gene. As a result, the R406W mutation in exon 13 was identified in all affected cases. This mutation has previously been reported in two different FTDP-17 families of Dutch and... (More)
Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism linked to chromosome 17 (FTDP-17). In the present study, a Swedish family with presenile degenerative dementia with bitemporal atrophy was screened for mutations in the tau gene. As a result, the R406W mutation in exon 13 was identified in all affected cases. This mutation has previously been reported in two different FTDP-17 families of Dutch and Midwestern American origin. Common features to these two kindreds and our family are the late age at onset and long duration of the disease. Our pedigree as well as the American one show early memory impairment and pronounced temporal lobar atrophy similar to AD, while the Dutch cases show more FTD features. This further illustrates the large clinical variability among cases with tau mutations and stresses the importance of genetic classification in addition to the traditional clinical classification of neurodegenerative disorders. Copyright (C) 2004 S. Karger AG, Basel. (Less)
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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
bilateral atrophy, tau R406W mutation, presenile dementia
in
Dementia and Geriatric Cognitive Disorders
volume
17
issue
4
pages
298 - 301
publisher
Karger
conference name
Frontotemporal Dementias. 4th International Conference
conference location
Lund, Sweden
conference dates
2003-04-24 - 2003-04-26
external identifiers
  • wos:000221793000012
  • pmid:15178940
  • scopus:2642517835
ISSN
1420-8008
DOI
10.1159/000077158
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Department of Psychogeriatrics (013304000)
id
ef2f7eb7-4082-44f4-9786-0a876b5b6932 (old id 276672)
date added to LUP
2016-04-01 12:22:01
date last changed
2022-02-21 22:21:37
@article{ef2f7eb7-4082-44f4-9786-0a876b5b6932,
  abstract     = {{Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism linked to chromosome 17 (FTDP-17). In the present study, a Swedish family with presenile degenerative dementia with bitemporal atrophy was screened for mutations in the tau gene. As a result, the R406W mutation in exon 13 was identified in all affected cases. This mutation has previously been reported in two different FTDP-17 families of Dutch and Midwestern American origin. Common features to these two kindreds and our family are the late age at onset and long duration of the disease. Our pedigree as well as the American one show early memory impairment and pronounced temporal lobar atrophy similar to AD, while the Dutch cases show more FTD features. This further illustrates the large clinical variability among cases with tau mutations and stresses the importance of genetic classification in addition to the traditional clinical classification of neurodegenerative disorders. Copyright (C) 2004 S. Karger AG, Basel.}},
  author       = {{Ostojic, J and Elfgren, Christina and Passant, Ulla and Nilsson, Karin and Gustafson, Lars and Lannfelt, L and Fabre, SF}},
  issn         = {{1420-8008}},
  keywords     = {{bilateral atrophy; tau R406W mutation; presenile dementia}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{298--301}},
  publisher    = {{Karger}},
  series       = {{Dementia and Geriatric Cognitive Disorders}},
  title        = {{The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy}},
  url          = {{http://dx.doi.org/10.1159/000077158}},
  doi          = {{10.1159/000077158}},
  volume       = {{17}},
  year         = {{2004}},
}