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Progressive Supranuclear Palsy: Pathology and Genetics
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Progressive supranuclear palsy (PSP) is an atypical Parkinsonian disorder associated with progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Neuropathologically, the subthalamic nucleus and brainstem, especially the midbrain tectum and the superior cerebellar peduncle, show atrophy. The substantia nigra shows loss of pigment corresponding to nigrostriatal dopaminergic degeneration. Microscopic findings include neuronal loss, gliosis and neurofibrillary tangles in basal ganglia, diencephalon and brainstem. Characteristic tau pathology is also found in glia. The major genetic risk factor for sporadic PSP is a common variant in the gene encoding microtubule‐associated protein tau (MAPT) and recent studies have suggested that this may result in the altered expression of specific tau protein isoforms. Imaging studies suggest that there may be sensitive and specific means to differentiate PSP from other parkinsonian disorders, but identification of a diagnostic biomarker is still elusive.
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“Progressive supranuclear palsy (PSP) is a devastating neurodegenerative disorder caused by the neuro-glial aggregation of tau protein, particularly in the basal ganglia, diencephalon, and brainstem1,2.”
From Neuroinflammation and Tau Colocalize in vivo in Progressive Supranuclear Palsy (2020) · cites this paper as [1]
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Etiologies of P arkinsonism in a Century‐Long Autopsy‐Based Cohort
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Metadata
- Authors
- Dickson, D. W., Rademakers, R., & Hutton, M. L.
- Affiliations
- Mayo Clinic in Florida (US)
- Venue
- Brain Pathology
- Publisher
- Wiley
- Published
- 2007-01
- Volume
- 17
- Issue
- 1
- Pages
- 74-82
- ISSN
- 1015-6305 (ISSN-L)
- 1750-3639
- PMC
- PMC8095545
- OpenAlex
- W2014875179
- Cited by
- 314
- References
- 99
- Citations by year
- 2026: 20 · 2025: 24 · 2024: 25 · 2023: 25 · 2022: 15 · 2021: 17 · 2020: 11 · 2019: 18 · 2018: 7 · 2017: 25 · 2016: 19 · 2015: 11 · 2014: 17 · 2013: 14 · 2012: 10
- FWCI
- 1.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Brain Pathology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (R01AG015866, P01AG014449, P01AG003949, P50AG025711, P01AG017216, P50AG016574)
- National Institute of Neurological Disorders and Stroke (P01NS040256, P50NS040256)
- National Institute of Environmental Health Sciences (R01ES013941, R01-ES02941)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- progressive supranuclear palsy, tauopathy, tau pathology, MAPT gene, tau isoforms, atypical parkinsonism, subthalamic nucleus, midbrain tectum, superior cerebellar peduncle, nigrostriatal degeneration, neurofibrillary tangles, gliosis, brainstem atrophy, differential diagnosis, diagnostic biomarkers, neuroimaging
- MeSH terms
- Humans, Supranuclear Palsy, Progressive, tau Proteins
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