Summary
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.
This is a preview of subscription content, log in via an institution to check access.
Abbreviations
- CBD:
-
Corticobasal degeneration
- FTD:
-
frontotemporal dementia
- FTDP-17:
-
frontotemporal dementia and parkinsonism linked to chromosome 17
- PSP:
-
progressive supranuclear palsy
References
M Baker I Litvan H Houlden J Adamson D Dickson J Perez-Tur et al. (1999) ArticleTitleAssociation of an extended haplotype in the tau gene with progressive supranuclear palsy Hum Mol Genet 8 711–715 Occurrence Handle10072441 Occurrence Handle10.1093/hmg/8.4.711 Occurrence Handle1:CAS:528:DyaK1MXitlGns7g%3D
O Bugiani JR Murrell G Giaccone M Hasegawa G Ghigo M Tabaton et al. (1999) ArticleTitleFrontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau J Neuropathol Exp Neurol 58 667–677 Occurrence Handle10374757 Occurrence Handle1:STN:280:DyaK1MzgtFaqsQ%3D%3D
C Conrad N Amano A Andreadis Y Xia K Namekataf F Oyama K Ikeda et al. (1998) ArticleTitleDifferences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy Neurosci Lett 250 135–137 Occurrence Handle9697937 Occurrence Handle10.1016/S0304-3940(98)00417-0 Occurrence Handle1:CAS:528:DyaK1cXktFKisLw%3D
B Ghetti ML Hutton ZK Wszolek (2003) Frontotemporal dementia and parkinsonism linked to chromosome 17 associated with tau gene mutations (FTDP-17T) DW Dickson (Eds) Neurodegeneration: the molecular pathology of dementia and movement disorders Neuropath Press Basel 86–102
H Houlden M Baker HR Morris N MacDonald S Pickering-Brown J Adamson et al. (2001) ArticleTitleCorticobasal degeneration and progressive supranuclear palsy share a common tau haplotype Neurology 56 1702–1706 Occurrence Handle11425937 Occurrence Handle1:STN:280:DC%2BD3MzmsFejsw%3D%3D
A Lossos A Reches A Gal JP Newman D Soffer JM Gomori et al. (2003) ArticleTitleFrontototemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family J Neurol 250 733–740 Occurrence Handle12796837 Occurrence Handle10.1007/s00415-003-1074-4 Occurrence Handle1:CAS:528:DC%2BD3sXnvVKisr8%3D
AD Sperfeld MB Collatz H Baier M Palmbach A Storch J Schwarz et al. (1999) ArticleTitleFTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation Ann Neurol 46 708–715 Occurrence Handle10553987 Occurrence Handle10.1002/1531-8249(199911)46:5<708::AID-ANA5>3.0.CO;2-K Occurrence Handle1:STN:280:DC%2BD3c%2FhvFCitw%3D%3D
E Werber C Klein J Grunfeld JM Rabey (2003) ArticleTitlePhenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin Mov Disord 18 595–598 Occurrence Handle12722177 Occurrence Handle10.1002/mds.10401
ZK Wszolek Y Tsuboi M Farrer RJ Uitti ML Hutton (2003) ArticleTitleHereditary tauopathies and parkinsonism Adv Neurol 91 153–163 Occurrence Handle12442674 Occurrence Handle1:CAS:528:DC%2BD3sXlslyru7w%3D
M Yasuda K Yokoyama T Nakayasu Y Nishimura M Matsui T Yokoyama et al. (2000) ArticleTitleA Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation Neurology 55 1224–1227 Occurrence Handle11071507 Occurrence Handle1:STN:280:DC%2BD3crhtlSjtA%3D%3D
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Baba, Y., Baker, M., Le Ber, I. et al. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm 114, 947–950 (2007). https://doi.org/10.1007/s00702-007-0632-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00702-007-0632-9