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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.

Your Question

I think that I may have progressive supranuclear palsy. How is it diagnosed and treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is progressive supranuclear palsy?

Progressive supranuclear palsy (PSP) is a degenerative neurologic disease due to damage to nerve cells in the brain.[1] Signs and symptoms vary but may include loss of balance; blurring of vision; problems controlling eye movement; changes in mood, behavior and judgment; cognitive decline; and slowing and slurred speech. PSP is often misdiagnosed as Parkinson disease due to similar symptoms. Onset is usually after age 60 but may occur earlier. Most cases of PSP appear to be sporadic, but familial cases have been reported. Some cases have been found to be caused by a mutation in the MAPT gene, and other genetic factors are being studied. There is currently no effective treatment for PSP, and symptoms usually do not respond to medications. Research regarding potential treatments is ongoing.[1][2]
Last updated: 1/28/2016

What are the signs and symptoms of progressive supranuclear palsy?

Progressive supranuclear palsy (PSP) causes a wide range of symptoms that differ among affected people. Most commonly, the first symptom is losing balance while walking, which may cause unexplained falls. Other common early symptoms include changes in personality, mood and behavior; irritability; and forgetfulness.[1]

As PSP progresses, most people develop blurring of vision and problems controlling eye movement. This can lead to involuntarily closing the eyes; prolonged or infrequent blinking; or difficulty opening the eyes. Some people have trouble maintaining eye contact during a conversation.[1]

Other issues develop as the disease advances, including slow movement (bradykinesia), clumsiness, and stiffness. These problems worsen with time, with most affected people ultimately needing a wheelchair.[3] Weakening of the muscles in the mouth, tongue and throat lead to slurred speech and difficulty swallowing. This often causes aspiration pneumonia, the most common cause of death in people with PSP.[1]

Last updated: 1/28/2016

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.[3]
Last updated: 1/29/2016

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.[4]

A diagnosis of PSP is currently based on the signs and symptoms present (clinical features).[4] Identifying early gait instability and difficulty moving the eyes (the hallmark of the disease), as well as ruling out other conditions, are most important.[1] 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.[4]
Last updated: 1/29/2016

How might progressive supranuclear palsy be treated?

There are currently no treatments that alter the course of disease for people with progressive supranuclear palsy (PSP), and no drugs that provide significant relief of symptoms.[4] However, supportive treatment may be helpful and may include:
  • Management of dysphagia and dysarthria with the help of dietitians as well as speech and language therapists
  • Early occupational therapy to promote longer independence in performing activities of daily living
  • The use of mirror-prism lenses for those with severe limitation of extraocular movements to read and feed themselves
  • The use of eyelid crutches, alone or in combination with botox therapy, for inability to open the eyes and blepharospasm
  • Physical therapy for symptomatic treatment of postural instability and falls, including gait and balance training[4]

A surgical procedure called a gastrostomy may be necessary when there are swallowing disturbances or a high risk of severe choking.[1]

Last updated: 1/29/2016

What is the long-term outlook for people with progressive supranuclear palsy?

Progressive supranuclear palsy (PSP) gets progressively worse.[1] Most people become dependent for care within three or four years from onset, and quality of life is significantly reduced.[4] However, with good attention to medical and nutritional needs, it is possible for many people with PSP to live a decade or more after the first symptoms appear. The condition predisposes people to serious complications such as pneumonia (the most common cause of death) secondary to difficulty in swallowing (dysphagia). Other complications that people may experience include choking, head injury, and fractures caused by falls.[1]
Last updated: 1/29/2016

References
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.