Progressive supranuclear palsy: Pathology and genetics

Research output: Contribution to journalArticle

145 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)74-82
Number of pages9
JournalBrain Pathology
Volume17
Issue number1
DOIs
StatePublished - Jan 2007

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Progressive Supranuclear Palsy
Parkinsonian Disorders
Brain Stem
Pathology
tau Proteins
Subthalamic Nucleus
Dysarthria
Diencephalon
Neurofibrillary Tangles
Gliosis
Microtubule-Associated Proteins
Substantia Nigra
Deglutition Disorders
Mesencephalon
Basal Ganglia
Neuroglia
Paralysis
Atrophy
Protein Isoforms
Biomarkers

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine

Cite this

Progressive supranuclear palsy : Pathology and genetics. / Dickson, Dennis W; Rademakers, Rosa V; Hutton, Michael L.

In: Brain Pathology, Vol. 17, No. 1, 01.2007, p. 74-82.

Research output: Contribution to journalArticle

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