Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies.

Animals Humans Supranuclear Palsy, Progressive / genetics Tandem Repeat Sequences Tauopathies / genetics tau Proteins / genetics

Journal

Nature reviews. Neurology
ISSN: 1759-4766
Titre abrégé: Nat Rev Neurol
Pays: England
ID NLM: 101500072

Informations de publication

Date de publication:
10 2021
Historique:
accepted: 07 07 2021
pubmed: 25 8 2021
medline: 21 1 2022
entrez: 24 8 2021
Statut: ppublish

Résumé

Tauopathies are classified according to whether tau deposits predominantly contain tau isoforms with three or four repeats of the microtubule-binding domain. Those in which four-repeat (4R) tau predominates are known as 4R-tauopathies, and include progressive supranuclear palsy, corticobasal degeneration, argyrophilic grain disease, globular glial tauopathies and conditions associated with specific MAPT mutations. In these diseases, 4R-tau deposits are found in various cell types and anatomical regions of the brain and the conditions share pathological, pathophysiological and clinical characteristics. Despite being considered 'prototype' tauopathies and, therefore, ideal for studying neuroprotective agents, 4R-tauopathies are still severe and untreatable diseases for which no validated biomarkers exist. However, advances in research have addressed the issues of phenotypic overlap, early clinical diagnosis, pathophysiology and identification of biomarkers, setting a road map towards development of treatments. New clinical criteria have been developed and large cohorts with early disease are being followed up in prospective studies. New clinical trial readouts are emerging and biomarker research is focused on molecular pathways that have been identified. Lessons learned from failed trials of neuroprotective drugs are being used to design new trials. In this Review, we present an overview of the latest research in 4R-tauopathies, with a focus on progressive supranuclear palsy, and discuss how current evidence dictates ongoing and future research goals.

Identifiants

DOI: 10.1038/s41582-021-00541-5 PMID: 34426686
pubmed: 34426686
doi: 10.1038/s41582-021-00541-5
pii: 10.1038/s41582-021-00541-5
doi:

Substances chimiques

MAPT protein, human 0
tau Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

601-620

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS089757
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC012519
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC014942
Pays : United States

Informations de copyright

© 2021. Springer Nature Limited.

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Auteurs

Maria Stamelou (M)

Parkinson's Disease and Movement Disorders Dept, HYGEIA Hospital, Athens, Greece. mstamelou@hygeia.gr.
European University of Cyprus, Nicosia, Cyprus. mstamelou@hygeia.gr.
Philipps University, Marburg, Germany. mstamelou@hygeia.gr.
ORCID: 0000-0003-1668-9925

Gesine Respondek (G)

Department of Neurology, Hanover Medical School, Hanover, Germany.

Nikolaos Giagkou (N)

Parkinson's Disease and Movement Disorders Dept, HYGEIA Hospital, Athens, Greece.

Jennifer L Whitwell (JL)

Department of Radiology, Mayo Clinic, Rochester, MN, USA.

Gabor G Kovacs (GG)

Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Disease (CRND), University of Toronto, Toronto, Ontario, Canada.
Laboratory Medicine Program and Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada.
ORCID: 0000-0003-3841-5511

Günter U Höglinger (GU)

Department of Neurology, Hanover Medical School, Hanover, Germany.
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
ORCID: 0000-0001-7587-6187

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Evolving concepts in progressive supranuclear...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Evolving concepts in progressive supranuclear...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › Paralysie supranucléaire progressive › Evolving concepts in progressive supranuclear...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Séquences répétées en tandem › Evolving concepts in progressive supranuclear...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Tauopathies › Evolving concepts in progressive supranuclear...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Protéines tau › Evolving concepts in progressive supranuclear...