Sequence analysis of tau in familial and sporadic progressive supranuclear palsy

J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):388-90. doi: 10.1136/jnnp.72.3.388.

Abstract

Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms of PSP have been described. Recently familial frontotemporal dementia linked to chromosome 17 (FTDP-17) has been shown to be due to mutations in tau and there may be a clinical and pathological overlap between PSP and FTDP-17. In this study we have analysed the tau sequence in two small families with PSP, and a number of clinically typical and atypical sporadic cases with pathological confirmation of the diagnosis. The tau mutations described in FTDP-17 were not found in the most clinically diagnosed patients with PSP. This suggests that usually FTDP-17 and PSP, including the rare familial form of PSP, are likely to be separate conditions and that usually PSP and typical PSP-like syndromes are not due to mutations in tau.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 17
  • DNA Mutational Analysis
  • Dementia / diagnosis
  • Dementia / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Sequence Analysis, DNA
  • Supranuclear Palsy, Progressive / diagnosis
  • Supranuclear Palsy, Progressive / genetics*
  • tau Proteins / genetics*

Substances

  • tau Proteins