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Comparative Study
. 2007 Jul;114(7):947-50.
doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

Y Baba  1 , M C Baker, I Le Ber, A Brice, L Maeck, J Kohlhase, M Yasuda, G Stoppe, O Bugiani, A D Sperfeld, Y Tsuboi, R J Uitti, M J Farrer, B Ghetti, M L Hutton, Z K Wszolek
Affiliations
Comparative Study

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

Y Baba et al. J Neural Transm (Vienna). 2007 Jul.

Abstract

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.

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