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Diseases

Genetic and Rare Diseases Information Center (GARD)

Progressive supranuclear palsy


Other Names for this Disease
  • Supranuclear palsy, progressive
  • PSP
  • Steele-Richardson-Olszewski Syndrome
  • Familial progressive supranuclear palsy (type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for progressive supranuclear palsy?

Progressive supranuclear palsy (PSP) is usually sporadic (not inherited), but in rare cases it can be inherited. While the genetic cause of PSP not usually known, it can be caused by a mutation in a gene called MAPT. To our knowledge, MAPT is currently the only gene for which clinical genetic testing for PSP is available. This means that if a person with PSP is found to have a disease-causing mutation in the MAPT gene, genetic testing of other family members for the same mutation in this gene may be available. Each child of a person with PSP caused by a MAPT mutation has a 50% chance to inherit the mutated gene. However, if a person with PSP does not have a mutation in the MAPT gene (which is most often the case), clinical genetic testing for other family members is not available.

The Genetic Testing Registry (GTR) provides information about the genetic tests available for PSP. People interested in genetic testing for PSP are encouraged to speak with a genetics professional for additional information.
Last updated: 1/31/2016

How is progressive supranuclear palsy diagnosed?

Progressive supranuclear palsy (PSP) is often hard to diagnose because its symptoms can be similar to those of other, more common movement disorders. It may also be hard to diagnose because some of the most characteristic symptoms may develop late, or not at all.[1]

A diagnosis of PSP is currently based on the signs and symptoms present (clinical features).[1] Identifying early gait instability and difficulty moving the eyes (the hallmark of the disease), as well as ruling out other conditions, are most important.[2] There is no laboratory test or imaging study that is diagnostic. Identifying neurofibrillary tangles (aggregates of tau) in their characteristic distribution aids in the diagnosis.[1]
Last updated: 1/29/2016

References
  1. Stewart A Factor, Christine Doss Esper. Progressive supranuclear palsy (PSP). UpToDate. Waltham, MA: UpToDate; December, 2015;
  2. Progressive Supranuclear Palsy Fact Sheet. NINDS. November 5, 2015; http://www.ninds.nih.gov/disorders/psp/detail_psp.htm.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Supranuclear palsy, progressive
  • PSP
  • Steele-Richardson-Olszewski Syndrome
  • Familial progressive supranuclear palsy (type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.