Rare Tauopathies

Research output: Contribution to journalArticle

Abstract

Tauopathies are rare neurodegenerative disorders related to microtubule-associated protein tau, which functions to stabilize microtubules. Pathological changes caused by overexpression or hyperphosphorylation of tau lead to the disengagement of tau from microtubules and accumulation of toxic intracellular inclusions. Tau pathology is the underlying mechanism for several sporadic and genetic disorders. These are collectively known as tauopathies. Each tauopathy is differentiated from others by its neuropathological features such as the presence of specific isoforms of tau, type of cellular inclusions, and the regions of the brain affected. Neuropathological features, with a few exceptions however, do not correspond to distinct clinical phenotypes. There is considerable phenotypic overlap between the different tauopathies. Interaction between tau and other protein inclusions further alters the clinical phenotype. Recent advances in the development of tau biomarkers, especially the development of tau radioligands used in positron emission tomography neuroimaging, and a better understanding of biology and pathology of tau are important first steps toward the ultimate goal of accurate diagnosis and disease modification in tauopathies.

Original languageEnglish (US)
Pages (from-to)264-273
Number of pages10
JournalSeminars in Neurology
Volume39
Issue number2
DOIs
StatePublished - Jan 1 2019

Fingerprint

Tauopathies
Microtubules
Pathology
Phenotype
tau Proteins
Inborn Genetic Diseases
Microtubule-Associated Proteins
Poisons
Inclusion Bodies
Neuroimaging
Neurodegenerative Diseases
Positron-Emission Tomography
Protein Isoforms
Biomarkers
Brain

Keywords

  • FTLD-tau
  • MAPT
  • tau
  • tau-PET

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Rare Tauopathies. / Ali, Farwa; Josephs, Keith Anthony.

In: Seminars in Neurology, Vol. 39, No. 2, 01.01.2019, p. 264-273.

Research output: Contribution to journalArticle

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