Progressive supranuclear ophthalmoplegia

Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Progressive Supranuclear Palsy Other loci for PSP have been mapped to chromosome 1q31 (PSNP2; 609454) and 11p12-p11 (PSNP3; 610898). See also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (260540).

OMIM