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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




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Comorbidity C0038868|progressive supranuclear palsy
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PubMedID- 25663411 Cognitive-behavioural features of progressive supranuclear palsy syndrome overlap with frontotemporal dementia.
PubMedID- 23962722 Hyperphosphorylated tau (p-tau) is the primary component of neurofibrillary tangles (nfts), a pathological hallmark of several neurodegenerative diseases including alzheimer's disease (ad), frontotemporal dementia with parkinsonism associated with chromosome 17, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy, which has recently gained significant attention due to sports- and military-related injuries (1–4).
PubMedID- 22492994 In a number of neurodegenerative diseases classified as tauopathies, which include frontotemporal dementia with parkinsonism associated with chromosome 17, progressive supranuclear palsy, corticobasal degeneration, and alzheimer's disease (ad), tau becomes hyperphosphorylated and aggregates into filaments, thus losing the ability to bind and stabilize microtubules (4,5).

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