A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation

Neurology. 2000 Oct 24;55(8):1224-7. doi: 10.1212/wnl.55.8.1224.

Abstract

The authors report a patient carrying a missense mutation in exon 10 of tau that causes a substitution at codon 301 (P301S). Although the patient shares the rapidly progressive frontotemporal dementia of the other reported pedigrees with P301S, the clinical phenotype is unique in that parkinsonism was a major symptom in the early stage and because behavioral symptoms with dementia became prominent 2 years after the onset of the disease. This study substantiates the notion that tau mutations at codon 301 can show various phenotypes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology
  • Dementia / genetics*
  • Dementia / pathology
  • Dementia / psychology*
  • Humans
  • Japan
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • tau Proteins / genetics*

Substances

  • tau Proteins