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tauopathy

Disorders characterized by abnormal deposition of the mt-tau: - Alzheimer's disease - frontotemporal dementias - frontotemporal dementia with parkinsonism (FTDP-17) - Pick's disease - corticobasal degeneration - progressive supranuclear palsy - pallidopontonigral degeneration - dementia pugilistica - amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam - argyrophilic grain disease - Down syndrome - diffuse neurofibrillary tangles with calcification - Gerstmann-Straussler-Scheinker disease - myotonic dystrophy - Nonaka distal myopathy - Niemann-Pick disease type C - non Guamanian motor neuron disease with neurofibrillary tangles - subacute sclerosing panencephalitis - postencephalitic parkinsonism - prion disease with neurofibrillary tangles - tangle only dementia Notes: - tau aggregates vary in phosphorylation & isoform content. - in Alzheimer's disease, all 6 tau isoforms are phosphorylated & aggregate into paired helical filaments - in corticobasal degeneration & progressive supranuclear palsy, only the phosphorylated 4R tau isoform (containing 4 microtubule binding domains) aggregates

Related

microtubule-associated protein tau (neurofibrillary tangle protein, paired helical filament-tau, PHF-tau, MAPT, MTBT1, m-tau, mtau)

Specific

Alzheimer's disease (AD) amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam argyrophilic grain disease (AgD) chronic traumatic encephalopathy (CTE) cortical-basal ganglionic degeneration; corticobasal degeneration dementia pugilistica Down's syndrome frontotemporal dementia; frontotemporal lobar degeneration; frontotemporal neurocognitive disorder (FTD, FTLD) Gerstmann-Straussler-Scheinker disease myotonic dystrophy; Steinert disease; myotonia dystrophica Niemann-Pick disease type C Nonaka distal myopathy pallidopontonigral degeneration Pick's disease post-encephalitic parkinsonism progressive supranuclear palsy; Steele-Richardson-Olszewski syndrome (PSP) subacute sclerosing panencephalitis (Dawson disease, SSPE)

General

neurodegenerative disease

References

  1. Lee VM et al, Neurodegenerative tauopathies Annu Rev Neurosci 24:1121-59, 2001 PMID: 11520939
  2. Mailliot et al, Pathological tau phenotypes. The weight of mutations, polymorphisms, and differential neuronal vulnerabilities. PMID: 11193138 Ann NY Acad Sci. 920:107-114, 2000
  3. Cairns NJ, Lee VM, Trojanowski JQ. The cytoskeleton in neurodegenerative diseases. J Pathol. 2004 Nov;204(4):438-49. Review. PMID: 15495240