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.
journal_name
Dement Geriatr Cogn Disordjournal_title
Dementia and geriatric cognitive disordersauthors
Ostojic J,Elfgren C,Passant U,Nilsson K,Gustafson L,Lannfelt L,Froelich Fabre Sdoi
10.1159/000077158keywords:
subject
Has Abstractpub_date
2004-01-01 00:00:00pages
298-301issue
4eissn
1420-8008issn
1421-9824pii
77158journal_volume
17pub_type
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