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

Y. Baba; 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

doi:10.1007/s00702-007-0632-9

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

Y. Baba, 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

Neurology

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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.

Original language	English (US)
Pages (from-to)	947-950
Number of pages	4
Journal	Journal of Neural Transmission
Volume	114
Issue number	7
DOIs	https://doi.org/10.1007/s00702-007-0632-9
State	Published - Jul 2007

Keywords

Chromosome 17 (FTDP-17)
Frontotemporal dementia
P301S
Parkinsonism
Race
tau mutation

ASJC Scopus subject areas

Neurology
Clinical Neurology
Psychiatry and Mental health
Biological Psychiatry

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10.1007/s00702-007-0632-9

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Baba, Y., Baker, M. C., Le Ber, I., Brice, A., Maeck, L., Kohlhase, J., Yasuda, M., Stoppe, G., Bugiani, O., Sperfeld, A. D., Tsuboi, Y., Uitti, R. J., Farrer, M. J., Ghetti, B., Hutton, M. L., & Wszolek, Z. K. (2007). Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. Journal of Neural Transmission, 114(7), 947-950. https://doi.org/10.1007/s00702-007-0632-9

Baba, Y, Baker, MC, Le Ber, I, Brice, A, Maeck, L, Kohlhase, J, Yasuda, M, Stoppe, G, Bugiani, O, Sperfeld, AD, Tsuboi, Y, Uitti, RJ, Farrer, MJ, Ghetti, B, Hutton, ML & Wszolek, ZK 2007, 'Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation', Journal of Neural Transmission, vol. 114, no. 7, pp. 947-950. https://doi.org/10.1007/s00702-007-0632-9

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

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.",

keywords = "Chromosome 17 (FTDP-17), Frontotemporal dementia, P301S, Parkinsonism, Race, tau mutation",

author = "Y. Baba and Baker, {M. C.} and {Le Ber}, I. and A. Brice and L. Maeck and J. Kohlhase and M. Yasuda and G. Stoppe and O. Bugiani and Sperfeld, {A. D.} and Y. Tsuboi and Uitti, {R. J.} and Farrer, {M. J.} and B. Ghetti and Hutton, {M. L.} and Wszolek, {Z. K.}",

year = "2007",

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doi = "10.1007/s00702-007-0632-9",

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AU - Baba, Y.

AU - Baker, M. C.

AU - Le Ber, I.

AU - Brice, A.

AU - Maeck, L.

AU - Kohlhase, J.

AU - Yasuda, M.

AU - Stoppe, G.

AU - Bugiani, O.

AU - Sperfeld, A. D.

AU - Tsuboi, Y.

AU - Uitti, R. J.

AU - Farrer, M. J.

AU - Ghetti, B.

AU - Hutton, M. L.

AU - Wszolek, Z. K.

PY - 2007/7

Y1 - 2007/7

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AB - 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.

KW - Chromosome 17 (FTDP-17)

KW - Frontotemporal dementia

KW - P301S

KW - Parkinsonism

KW - Race

KW - tau mutation

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

Abstract

Keywords

ASJC Scopus subject areas

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