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, Bernardino Ghetti, M. L. Hutton, Z. K. Wszolek

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

Fingerprint

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Haplotypes
Mutation
Genotype
Phenotype
Personality

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. / 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, Bernardino; Hutton, M. L.; Wszolek, Z. K.

In: Journal of Neural Transmission, Vol. 114, No. 7, 07.2007, p. 947-950.

Research output: Contribution to journalArticle

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
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, Bernardino ; Hutton, M. L. ; Wszolek, Z. K. / Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. In: Journal of Neural Transmission. 2007 ; Vol. 114, No. 7. pp. 947-950.
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