Recent advances in the understanding of tau protein and movement disorders

Curr Opin Neurol. 2001 Aug;14(4):491-7. doi: 10.1097/00019052-200108000-00010.

Abstract

Tau plays an important role in movement disorders. The accumulation of pathological tau is a major substrate of frontotemporal dementia and parkinsonism linked to chromosome 17, progressive supranuclear palsy, and corticobasal degeneration. Over the past year, several new mutations on the tau gene have been found. These mutations have been classified into three groups: (i) mutations in constitutively spliced exons; (ii) mutations in the alternatively spliced exon 10; and (iii) mutations of the exon 10 5' splice site. Some patients presenting with frontotemporal dementia and parkinsonism linked to chromosome 17 transiently respond to levodopa therapy. The significance of Pick bodies was recognized by a recent study on kindred with the Glu342Val tau mutation. In sporadic cases of progressive supranuclear palsy, the presence of the H1 haplotype was found to be a risk factor. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. This opens the question of whether corticobasal degeneration represents a separate disorder or a spectrum of disease with progressive supranuclear palsy. However, distinguishing features are observed, and include oculomotor abnormalities, which may help to differentiate these two disorders on clinical grounds. Despite recent advances in the understanding of the tauopathies, there are still no curative therapies available. It is hoped that studies in transgenic tau animal models will lead to the development of successful treatments.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Atrophy
  • Brain / pathology
  • Cerebral Cortex / pathology
  • Dementia / diagnosis
  • Dementia / genetics*
  • Diagnosis, Differential
  • Humans
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics*
  • Neuromuscular Diseases / diagnosis
  • Neuromuscular Diseases / genetics*
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics
  • Supranuclear Palsy, Progressive / diagnosis
  • Supranuclear Palsy, Progressive / genetics
  • tau Proteins / genetics*

Substances

  • tau Proteins