Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

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.

Cause

Newline Maker

What causes progressive supranuclear palsy?

While progressive supranuclear palsy (PSP) is usually sporadic, some cases run in families. In most cases, the genetic cause is unknown, but some are due to mutations or "variations" in the MAPT gene.

The MAPT gene gives the body instructions to make a protein called tau. This protein is found in nerve cells (neurons) in the brain and in other parts of the nervous system. It plays a part in putting together and stabilizing components of the structure of cells, helping cells to keep their shape, and aiding in cell division and the transport of materials. It appears that gene mutations or variations that affect the function of the tau protein cause PSP, or cause an increased risk for a person to develop PSP.

Abnormal tau is also found in people with PSP who don't have MAPT mutations. Therefore, researchers think that additional genetic and environmental factors contribute to the development of PSP. However, other specific genes that may be involved have not yet been identified.[1]
Last updated: 1/29/2016

References
  1. Progressive Supranuclear Palsy. Genetics Home Reference. May, 2015; http://ghr.nlm.nih.gov/condition/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.