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

J Neural Transm (Vienna). 2007 Jul;114(7):947-50. doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.

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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 17 / genetics*
  • Female
  • Frontotemporal Lobar Degeneration / genetics*
  • Frontotemporal Lobar Degeneration / pathology
  • Genetic Linkage*
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Male
  • Mutation / genetics*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology
  • Young Adult
  • tau Proteins / genetics*

Substances

  • tau Proteins