Frontotemporal dementia with tau pathology.
Tau is a microtubule-associated protein involved in microtubule assembly and stabilization. Filamentous deposits made of tau constitute a major defining characteristic of several neurodegenerative diseases known as tauopathies including Alzheimer's disease. The involvement of tau in neurodegeneration has been clarified by the identification of genetic mutations in the tau gene in cases with familial frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Although the mechanism through which tau mutations lead to neuronal death is still unresolved, it is clear that tau mutations lead to formation of tau filaments that have a different morphology, contain different types of tau isoforms and produce distinct tau deposits. The range of tau pathology identified in FTDP-17 recapitulates the tau pathology present in sporadic tauopathies and indicates that tau dysfunction plays a major role also in these diseases.
Gasparini
Laura
L
Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Terni
Beatrice
B
Spillantini
Maria Grazia
MG
D000818:Animals; D003704:Dementia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D024801:Tauopathies / Q000235:genetics / Q000378:metabolism*; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism*
D016875:tau Proteins