The Effect of tau genotype on clinical features in FTDP-17

Yasuhiko Baba, Yoshio Tsuboi, Matthew C. Baker, Ryan J. Uitti, Michael L. Hutton, Dennis W. Dickson, Matthew Farrer, John D. Putzke, Bryan K. Woodruff, Bernardino Ghetti, Jill R. Murrell, Bradley F. Boeve, Ronald C. Petersen, Patrice Verpillat, Alexis Brice, Marie Bernadette Delisle, Oliver Rascol, Kunimasa Arima, Maurice W. Dysken, Minoru YasudaTomonori Kobayashi, Nobuhiko Sunohara, Osamu Komure, Sadako Kuno, Anne D. Sperfeld, Gabriela Stoppe, Jürgen Kohlhase, Stuart Pickering-Brown, David Neary, Orso Bugiani, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17.

Original languageEnglish (US)
Pages (from-to)205-208
Number of pages4
JournalParkinsonism and Related Disorders
Issue number4
StatePublished - Jun 2005


  • Chromosome 17 (FTDP-17)
  • Clinical feature
  • Frontotemporal dementia
  • Parkinsonism
  • tau genotype


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