Progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is a rare neurological disorder that affects body movements, walking and balance, and eye movements. Progressive supranuclear palsy is caused by damage to nerve cells in areas of the brain that control thinking and body movements. It is one of a family of neurological conditions called atypical parkinsonism and belongs to the category of frontotemporal disorders.

Progressive supranuclear palsy is different from Parkinson disease, although some of their symptoms are similar. Progressive supranuclear palsy typically begins in a person’s mid- to late-60s, later than when Parkinson disease symptoms typically develop. The disease usually worsens rapidly and most people with progressive supranuclear palsy develop severe disability within three to five years of symptom onset. Progressive supranuclear palsy can lead to serious complications such as pneumonia, choking, or head injuries from falls.

Symptoms of progressive supranuclear palsy

Progressive supranuclear palsy affects a person’s movements, and can lead to loss of balance, difficulty walking or swallowing, slurred speech, problems with eye movements. Progressive supranuclear palsy can also affect a person’s mood, behavior, and thinking. The most frequent first symptom of progressive supranuclear palsy is a loss of balance while walking which can lead to abrupt and unexplained falls. People with progressive supranuclear palsy may also have stiffness and slow movement.

As the disease progresses, most people develop eye problems. Eye and vision symptoms may include:

• Slow eye movements
• Trouble looking up or down
• Trouble controlling eyelids, involuntary closing of the eyes, decreased blinking, or difficulty opening the eyes
• Tendency to move the head rather than just the eyes to look in different directions

People with progressive supranuclear palsy and their loved ones may notice changes in mood or behavior. These may include:

• Depression
• Lack of motivation
• Changes in judgment, insight, and problem-solving
• Difficulty finding words
• Forgetfulness
• Loss of interest in activities the person used to enjoy
• Increased irritability
• Sudden laughing, crying, or angry outbursts for no apparent reason
• Personality changes
• Slowed, slurred, or monotone speech
• Difficulty swallowing
• Mask-like facial expressions
• Sleep problems

How is progressive supranuclear palsydifferent from Parkinson disease?

Progressive supranuclear palsy is often misdiagnosed as Parkinson disease, especially early in the disorder. The two disorders share many symptoms; however, progressive supranuclear palsy progresses more rapidly than Parkinson disease.

There are several key differences between progressive supranuclear palsy and Parkinson disease:

• People with progressive supranuclear palsy tend to lean backwards and extend their neck. The unexplained falls that accompany progressive supranuclear palsy usually arise from falling backward. This is termed “axial rigidity.” People with Parkinson disease tend to bend forward rather than backward.
• Problems with speech and swallowing are much more common and severe in progressive supranuclear palsy than in Parkinson disease and usually show up earlier in the disease.
• People with progressive supranuclear palsy develop unique eye movement problems with looking up and down.
• Tremor is rare in progressive supranuclear palsy but very common in individuals with Parkinson disease.
• Individuals with Parkinson disease often show great benefit from levodopa therapy, while people with progressive supranuclear palsy have minimal or no response.
• A signature of progressive supranuclear palsy is the accumulation in affected brain cells of a protein known as tau, whereas in Parkinson disease, a different protein called alpha-synuclein accumulates in diseased brain cells.

Who is more likely to get progressive supranuclear palsy?

The exact cause of progressive supranuclear palsy is unknown, but research suggests that it involves progressive damage to cells in a few specific areas in the brain, mainly in the brain stem. The death of brain cells in one of these areas, the substantia nigra, accounts in part for the motor symptoms that progressive supranuclear palsy and Parkinson have in common. The tau protein deposits that accumulate in nerve cells in progressive supranuclear palsy appear to spread to different regions of the brain and cause cells to stop working and die. This in turn destroys the neuronal connections that underlie healthy brain function.

Progressive supranuclear palsy is usually sporadic, meaning that it occurs randomly without a known cause. In very few cases, the disease results from mutations in the MAPT gene. This mutation provides faulty instructions for making tau in brain cells. For most people with progressive supranuclear palsy, no known genetic factor is found.

Several theories suggest that progressive supranuclear palsy might be caused by:

• Random genetic changes that occur in particular cells or genes in a specific combination that injures these cells.
• Exposure to some unknown environmental factor (such as chemicals in food, air, or water), which slowly damages certain vulnerable areas of the brain.
• Cellular damage caused by free radicals, which are reactive molecules produced continuously by all cells during normal metabolism. Although the body has built-in ways to clear free radicals from the body, scientists suspect that—under certain circumstances—free radicals can react with and damage other molecules.

How is progressive supranuclear palsy diagnosed and treated?

Diagnosing progressive supranuclear palsy. Currently there are no tests or brain imaging techniques to definitively diagnose progressive supranuclear palsy. A physician will review your medical history and perform a physical and neurological exam. It is important to identify problems with gait, eye movements, speech, and swallowing early. Exams can help rule out other similar disorders. Diagnostic imaging may show shrinkage at the top of the brain stem and help doctors examine brain activity in certain areas.

Treating progressive supranuclear palsy. There is currently no treatment that effectively stops or slows the progression of progressive supranuclear palsy, and symptoms usually do not respond well to medications.

• Parkinson disease medications rarely help people with progressive supranuclear palsy. In some individuals, levodopa can treat the slowness, stiffness, and balance problems associated with progressive supranuclear palsy, but the effect is usually minimal and short-lasting.
• Injections of botulinum toxin into muscles around the eyes can help with progressive supranuclear palsy-associated eye closing.
• Some antidepressant drugs may offer some benefits beyond treating depression, such as pain relief and decreasing drooling.

There are also non-drug treatment options for progressive supranuclear palsy symptoms.

• Weighted walking aids can reduce the risk of falling backward.
• Bifocals or special glasses called prisms can help reduce difficulty looking down.
• Exercise and physical activity (supervised by a healthcare professional) can keep joints limber.
• People who have significant trouble swallowing and are at risk of serious choking may have a surgical procedure to place a tube into the stomach to allow the person to get nutrients without having to chew and swallow.

Deep brain stimulation via devices that deliver electrical stimulation to parts of the brain and other surgical procedures commonly used in Parkinson disease have not proven effective in progressive supranuclear palsy.

What are the latest updates on progressive supranuclear palsy?

NINDS, a component of the National Institutes of Health (NIH), is the primary funder of research on the brain and nervous system. NIH is the leading funder of biomedical research in the world.

Progressive supranuclear palsy is one of the disorders being studied as part of the NINDS Parkinson's Disease Biomarkers Program. This initiative is aimed at discovering ways to identify individuals at risk for developing Parkinson disease and related disorders, and to track the progression of these diseases. NINDS also supports clinical research studies to develop brain imaging that may allow for earlier and more accurate diagnosis of progressive supranuclear palsy.

Understanding genetics and the tau protein. Researchers hope to identify specific gene changes that cause progressive supranuclear palsy and are also studying how genetics and the environment interact to make people more susceptible to the disease. Previous studies have linked multiple genes, including the gene for making the tau protein (MAPT), with progressive supranuclear palsy.

Scientists hope to understand the mechanisms involving tau that lead to progressive supranuclear palsy and its symptoms. NINDS supports research to characterize and distinguish the different formations of the tau protein and to better understand the role of accumulated tau protein in progressive supranuclear palsy. Other studies are exploring ways to improve how to image or visualize tau in the brain.

Understanding the underlying disease mechanisms. Animal or cell models may identify how progressive supranuclear palsy occurs and progresses, and this knowledge may lead to the discovery of potential therapies. Other studies in animal models and patients focus on learning about the parts of the brain affected by progressive supranuclear palsy, such as those involved in motor control and thinking, which can also help us better understand the disease mechanisms.

Developing treatments. There have been significant efforts to develop new therapies for progressive supranuclear palsy to slow down or stop the disease progression. Many of these studies focus on developing anti-tau therapy to stop the accumulation and spread of the tau protein. Other studies have focused on different progressive supranuclear palsy-related changes in the nervous system, including inflammation and problems with mitochondria (the energy factories in cells). Other studies hope to find ways to improve brain activity using a special type of brain stimulation that does not involve surgery. Some researchers are exploring stem cell-based therapies to help symptoms of progressive supranuclear palsy. For a current list of clinical trials for progressive supranuclear palsy, please visit clinicaltrials.gov.

The Rare Diseases Clinical Research Network, led by NIH's National Center for Advancing Translational Sciences (NCATS), is designed to facilitate research collaboration, study enrollment, and data sharing among rare diseases researchers. The Rare Diseases Clinical Research Network funded under this project studies neurological disorders, including progressive supranuclear palsy.

Research on progressive supranuclear palsy and related disorders can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. NIH RePORTER also includes links to publications and patents citing support from these projects.

How can I or my loved one improve care for someone with progressive supranuclear palsy?

If you or someone you know has recently been diagnosed, contact the organizations referenced below to find out more about care, support, and research. It is important to educate family, friends, and caregivers about your or a loved one's diagnosis. In-person and online support groups offered by nonprofit organizations can give you, families, and caregivers additional resources and opportunities to share experiences and learn about strategies for care and support.

Participate in a clinical trial or study. Consider participating in a clinical trial so clinicians and scientists can learn more about progressive supranuclear palsy. Clinical research uses human volunteers to help researchers learn more about a disorder and find better ways to safely detect, treat, or prevent disease. All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

The FTD Disorders Registry is a contact and research registry for people diagnosed with frontotemporal disorders, including progressive supranuclear palsy. It is open to family members, caregivers, or friends of people diagnosed with an FTD. Registries help speed up trials by gathering a list of “willing and able” potential participants. People who sign up may be referred to specific studies but are not obligated to participate.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with progressive supranuclear palsy at Clinicaltrials.gov, a searchable database of current and past clinical studies.

Where can I find more information about progressive supranuclear palsy?

Information may be available from the following resources:

CUREPSP
Phone: 347-294-2873 or 800-457-4777

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

FTD Registry
Phone: 888-840-9980

Information about progressive supranuclear palsy is also available:

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/progressive-supranuclear-palsy-psp Accessed July 14, 2023.

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