Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia

Autor: David Craufurd, Julie S. Snowden, David Neary, Timothy Lynch, Andrew Grover, Ff. Owen, Henry Houlden, S. C. Waring, Stuart Pickering-Brown, Dennis W. Dickson, Brad F. Boeve, D. M. A. Mann, R. C. Petersen, Matt Baker, Jennifer Adamson, Mike Hutton
Rok vydání: 1999
Předmět:
Zdroj: Annals of Neurology. 46:243-248
ISSN: 1531-8249
0364-5134
DOI: 10.1002/1531-8249(199908)46:2<243::aid-ana14>3.0.co;2-l
Popis: Splice-site and missense mutations have been identified in tau associated with frontotemporal dementia with parkinsonism linked to chromosome 17. In this study we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer's (non-AD) degenerative dementia. The groups included (1) a community-based dementia series from Minnesota, MN; (2) a referral series with clinicopathological tauopathy; and (3) a pathologically confirmed familial frontotemporal dementia series from Manchester, UK. Comparing the three clinical series: in the stringently diagnosed Manchester frontotemporal dementia series, tau mutations were present in 13.6% of cases (three splice-site mutations); in the clinicopathological referral series that used more general inclusion criteria, 3 cases with P301L mutations were observed, which represents a lower mutation frequency of 3.6% (9.4% in familial cases); in contrast, tau mutations were not detected in the Minnesota community-based dementia series, suggesting the occurrence of these mutations in dementia generally is rare (
Databáze: OpenAIRE
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