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

Research output: Contribution to journalArticle

19 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 languageEnglish (US)
Pages (from-to)947-950
Number of pages4
JournalJournal of Neural Transmission
Volume114
Issue number7
DOIs
StatePublished - Jul 1 2007

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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

Cite this

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