Progressive supranuclear palsy (PSP; also known as Steele-Richardson-Olszewski syndrome) is a rare disease that gradually destroys nerve cells in the parts of the brain that control eye movements, breathing, and muscle coordination. The loss of nerve cells causes palsy, or paralysis, that slowly gets worse as the disease progresses. The palsy affects ability to move the eyes, relax the muscles, and control balance.
Description
Progressive supranuclear palsy is a disease of middle age. Symptoms usually begin in the 60s, rarely before age 45 or after age 75. Men develop PSP more often than women do. It affects three to four people per million each year.
Causes and symptoms
PSP affects the brainstem, the basal ganglia, and the cerebellum. The brainstem is located at the top of the spinal cord. It controls the most basic functions needed for survival—the involuntary (unwilled) movements such as breathing, blood pressure, and heart rate. The brainstem has three parts: the medulla oblongata, the pons, and the midbrain. The parts affected by PSP are the pons, which controls facial nerves and the muscles that turn the eye outward, and the midbrain, the visual center. The basal ganglia are islands of nerve cells located deep within the brain. They are involved in the initiation of voluntary (willed) movement and control of emotion. Damage to the basal ganglia causes muscle stiffness (spasticity) and tremors. The cerebellum is located at the base of the skull. It controls balance and muscle coordination.
Vision is controlled by groups of cells called nuclei in the brainstem. In PSP, the nuclei continue to function, but the mechanisms that control the nuclei are destroyed. The term supranuclear means that the damage is done above (supra) the nuclei. Patients with PSP have difficulty with voluntary (willed) eye movement. At first, the difficulty only occurs in trying to look down. As the disease progresses, ability to move the eyes right and left is also affected. However, reflex or unwilled eye movements remain normal. Thus, when the patient's head is tilted upwards, the eyes move to look down. These reflex movements remain normal until late in the course of the disease. The upper eyelids may be pulled back, the eyebrows raised, and the brow wrinkled, causing a typical wide-eyed stare. Rate of blinking may decrease from the normal 20–30 per minute to three to five per minute. It becomes difficult to walk downstairs, to maintain eye contact during conversation, or to move the eyes up and down to read.
The earliest symptoms of PSP may be frequent falls or stiff, slow movements of the arms and legs. These symptoms may appear as much as five years before the characteristic vision problems. Walking becomes increasingly awkward, and some patients tend to lean and fall backward. Facial muscles may be weak, causing slurred speech and difficulty swallowing. Sleep may be disturbed and thought processes slowed. Although memory remains intact, the slowed speech and thought patterns and the rigid facial expression may be mistaken for senile dementia or Alzheimer's disease. Emotional responses may become exaggerated and inappropriate, and the patient may experience anxiety, depression, and agitation.
The cause of PSP is not known. Most people who develop PSP come from families with no history of the disease, so it does not seem to be inherited, except in certain rare instances. People who have PSP seem to lack the neurotransmitters dopamine and homovanillic acid in the basal ganglia. Neurotransmitters are chemicals that help carry electrical impulses along the nervous system. Transmitting structures in brain cells called neurofibrils become disorganized (neurofibrillary tangles). Neurofibrillary tangles are also found in Alzheimer's disease, but the pattern is somewhat different.
Diagnosis
PSP is sometimes mistaken for Parkinson's disease, which is also associated with stiffness, frequent falls, slurred speech, difficulty swallowing, and decreased spontaneous movement. The facial expression in Parkinson's, however, is blank or mask-like, whereas in PSP it is a grimace and wide-eyed stare. PSP does not cause the uncontrolled shaking (tremor) in muscles at rest that is associated with Parkinson's disease. Posture is stooped in Parkinson's disease, but erect in PSP. Speech is of low volume in both diseases, but is more slurred and irregular in rhythm in PSP.
Multiple strokes or abnormal accumulations of fluid within the skull (hydrocephalus) can also cause balance problems similar to PSP. Magnetic resonance imaging (MRI) scans of the brain may be needed to rule out these conditions. In advanced cases, MRI shows characteristic abnormalities in the brainstem described as "mouse ears."
Treatment
PSP cannot be cured. Drugs are sometimes given to relieve symptoms, but drug treatment is usually disappointing. Dopaminergic medications used in Parkinson's disease, such as levodopa (Sinemet), sometimes decrease stiffness and ease spontaneous movement. Anticholinergic medications, such as trihexyphenidyl (Artane), which restore function to neurotransmitters, or tricyclic drugs, such as amitriptyline (Elavil) may improve speech, walking, and inappropriate emotional responses.
Speech therapy may help manage the swallowing and speech difficulty in PSP. As the disease progresses, the difficulty in swallowing may cause the patient to choke and get small amounts of food in the lungs. This condition can cause aspiration pneumonia. The patient may also lose too much weight. In these cases, a feeding tube may be needed. The home environment should be modified to decrease potential injury from falls. Walkers can be weighted in front, to prevent backward falls and handrails can be installed in the bathroom. Because the patient cannot look down, low objects like throw rugs and coffee tables should be removed. Dry eyes from infrequent blinking can be treated with drops or ointments.
Prognosis
The patient's condition gradually deteriorates. After about seven years, balance problems and stiffness make it nearly impossible for the patient to walk. Persons with PSP become more and more immobile and unable to care for themselves. Death is not caused by the PSP itself. It is usually caused by pneumonia related to choking on secretions or by starvation related to swallowing difficulty. It usually occurs within 10 years, but if good general health and nutrition are maintained, the patient may survive longer.
Prevention
PSP cannot be prevented.
BOOKS
Brusa, A., and P. F. Peloso. An Introduction to Progressive Supranuclear Palsy. Rome: John Libby, 1993.
Golbe, L. I. Progressive Supranuclear Palsy—Some Answers: A Guide for Patient and Family. 3rd ed. Baltimore: Society for Progressive Supranuclear Palsy, 1994.
PERIODICALS
Hauw, J. J., et al. "Preliminary NINDS Neuropathologic Criteria for Steele-Richardson-Olszewski Syndrome (Progressive Supranuclear Palsy)." Neurology 44 (1994): 2015-2019.
ORGANIZATIONS
American Academy of Neurology. 1080 Montreal Ave., St. Paul, MN 55116. (612) 695-1940. <http://www.aan.com>.
Society for Progressive Supranuclear Palsy, Inc. Suite #5065 Johns Hopkins Outpatient Center, 601 N. Caroline St., Baltimore, MD 21287. (800) 457-4777. <http://www.psp.org>.
Laurie Barclay, MD
KEY TERMS
Basal ganglia—Brain structure at the base of the cerebral hemispheres, involved in controlling movement.
Brainstem—Brain structure closest to the spinal cord, involved in controlling vital functions, movement, sensation, and nerves supplying the head and neck.
Cerebellum—The part of the brain involved in coordination of movement, walking, and balance.
Magnetic resonance imaging (MRI)—An imaging technique that uses a large circular magnet and radio waves to generate signals from atoms in the body. These signals are used to construct images of internal structures.
Parkinson's disease—A slowly progressive disease that destroys nerve cells. Parkinson's is characterized by shaking in resting muscles, a stooping posture, slurred speech, muscular stiffness, and weakness.
