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

H. Houlden, M. Baker, J. Adamson, A. Grover, S. Waring, Dennis W Dickson, T. Lynch, Bradley F Boeve, Ronald Carl Petersen, S. Pickering-Brown, F. Owen, D. Neary, D. Craufurd, J. Snowden, D. Mann, M. Hutton

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Abstract

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 (<0.20%). These data identify the prevalence of mutations in three different clinical settings and indicate that this figure is sensitive to the diagnostic criteria used in each patient series.

Original languageEnglish (US)
Pages (from-to)243-248
Number of pages6
JournalAnnals of Neurology
Volume46
Issue number2
DOIs
StatePublished - 1999

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Mutation Rate
Dementia
Mutation
Frontotemporal Dementia
Referral and Consultation
Tauopathies
Chromosomes, Human, Pair 17
Missense Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. / Houlden, H.; Baker, M.; Adamson, J.; Grover, A.; Waring, S.; Dickson, Dennis W; Lynch, T.; Boeve, Bradley F; Petersen, Ronald Carl; Pickering-Brown, S.; Owen, F.; Neary, D.; Craufurd, D.; Snowden, J.; Mann, D.; Hutton, M.

In: Annals of Neurology, Vol. 46, No. 2, 1999, p. 243-248.

Research output: Contribution to journalArticle

Houlden, H, Baker, M, Adamson, J, Grover, A, Waring, S, Dickson, DW, Lynch, T, Boeve, BF, Petersen, RC, Pickering-Brown, S, Owen, F, Neary, D, Craufurd, D, Snowden, J, Mann, D & Hutton, M 1999, 'Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia', Annals of Neurology, vol. 46, no. 2, pp. 243-248. https://doi.org/10.1002/1531-8249(199908)46:2<243::AID-ANA14>3.0.CO;2-L
Houlden, H. ; Baker, M. ; Adamson, J. ; Grover, A. ; Waring, S. ; Dickson, Dennis W ; Lynch, T. ; Boeve, Bradley F ; Petersen, Ronald Carl ; Pickering-Brown, S. ; Owen, F. ; Neary, D. ; Craufurd, D. ; Snowden, J. ; Mann, D. ; Hutton, M. / Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. In: Annals of Neurology. 1999 ; Vol. 46, No. 2. pp. 243-248.
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