Tauopathies: new perspectives and challenges

Mol Neurodegener. 2022 Apr 7;17(1):28. doi: 10.1186/s13024-022-00533-z.

Abstract

Background: Tauopathies are a class of neurodegenerative disorders characterized by neuronal and/or glial tau-positive inclusions.

Main body: Clinically, tauopathies can present with a range of phenotypes that include cognitive/behavioral-disorders, movement disorders, language disorders and non-specific amnestic symptoms in advanced age. Pathologically, tauopathies can be classified based on the predominant tau isoforms that are present in the inclusion bodies (i.e., 3R, 4R or equal 3R:4R ratio). Imaging, cerebrospinal fluid (CSF) and blood-based tau biomarkers have the potential to be used as a routine diagnostic strategy and in the evaluation of patients with tauopathies. As tauopathies are strongly linked neuropathologically and genetically to tau protein abnormalities, there is a growing interest in pursuing of tau-directed therapeutics for the disorders. Here we synthesize emerging lessons on tauopathies from clinical, pathological, genetic, and experimental studies toward a unified concept of these disorders that may accelerate the therapeutics.

Conclusions: Since tauopathies are still untreatable diseases, efforts have been made to depict clinical and pathological characteristics, identify biomarkers, elucidate underlying pathogenesis to achieve early diagnosis and develop disease-modifying therapies.

Keywords: Biomarkers; Genetics; Neurodegeneration; Tauopathies; Therapeutics.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Inclusion Bodies / metabolism
  • Neurodegenerative Diseases* / metabolism
  • Neurons / metabolism
  • Protein Isoforms / genetics
  • Tauopathies* / metabolism
  • tau Proteins / metabolism

Substances

  • Protein Isoforms
  • tau Proteins