December 5, 2003

National Study Seeks Cause of Baffling,
Fatal Disorder Called Multiple System Atrophy

By Sue Pondrom

A better understanding of a baffling, frequently misdiagnosed disease called Multiple Systems Atrophy (MSA) will be sought by researchers at 12 sites in the U.S. as part of a five-year, $7 million grant from the National Institutes of Health (NIH). A devastating disease with multiple symptoms, no cure and no effective treatment, MSA strikes people in middle age. Most patients die within seven to 10 years.

Coordinated by the University of California, San Diego (UCSD) School of Medicine, the national research project will enroll 175 individuals with MSA and 350 control subjects who don’t have the fatal disorder, in an attempt to identify possible environmental and genetic causes.

Clifford Shults, M.D. and his research coordinator Deborah Fontaine

“Although there are estimates that MSA affects approximately 50,000 Americans, the true number is unknown,” said the study’s principal investigator, Clifford Shults, M.D., UCSD professor of neurosciences. “With its variety of symptoms, this disease is often misdiagnosed.”

He added that it’s unrealistic to think that one drug can treat all the symptoms. “What we need is to find the cause or causes, and stop MSA before the degeneration progresses.”

Researchers will look for environmental risk factors such as points in a person’s work, medical history and dietary habits, which are common to MSA patients and less common in individuals without MSA. They will look for possible genetic causes of MSA, and use sophisticated molecular biology techniques, such as transgenic mice bred to mimic MSA, to investigate genetic factors and cell biology that contribute to the cellular malfunction.

A progressive, degenerative neurological disorder with an average onset of 54 years of age, MSA is characterized by a wide range of symptoms, including muscle stiffness or rigidity, frozen or slowed movements, balance and coordination problems, a significant drop in blood pressure upon standing, urinary difficulties, male impotence, constipation, speech and swallowing difficulties, and blurred vision. Pneumonia is the most common cause of death, although irregularities in heartbeat or choking may be a contributing factor.

Misdiagnosis or a delay in determining the cause of this multiple symptom disorder has plagued many MSA patients. For several years, that’s what happened to Texan Gwen Summers, a vivacious mother of four sons. Although her first symptoms – weakness, fatigue and incontinence – began when she was 53 years old, Gwen and her husband, Don, didn’t get a definitive diagnosis until five years later.

“We saw 28 different doctors, who ruled out virtually everything but didn’t know what it was,” Don said. “One doctor even put her in a psychiatric hospital for 12 weeks.”

When one doctor finally looked at the entire cluster of symptoms, a diagnosis was reached. Although the Summers were happy to know the cause of Gwen’s problems, they also learned that there is no cure and a rapid worsening of symptoms. By age 63, Gwen was dead.

Ron and Suzanne Rogers are interviewed by a local television station regarding their battle with MSA.

Ron and Suzanne Rogers of San Diego, California have a similar story. An executive secretary, mother of two and a skiing enthusiast, Suzanne began to have trouble pronouncing words at work. That was 11 years ago, when she was only 45. Although she also had some difficulty skiing that winter, both she and Ron brushed it off.

By the next ski season, however, Suzanne couldn’t maintain her balance on skis and even had difficulty walking. At that point, she visited a neurologist who examined her, found nothing wrong and suggested that she return in six months to a year.

Ron wasn’t willing to let it end there. With his continuous pushing, Suzanne was seen by the head of neurology at the Naval Hospital in San Diego, who conducted several tests, which he sent to the Mayo Clinic for an opinion. All doctors involved came to the same conclusion; Suzanne had MSA.

Today, Suzanne is confined to a wheelchair. Unable to move her legs, arms and hands, she is fed by Ron. He also turns her over in bed at night and four times a day replaces her catheter.

In spite of Suzanne’s declining condition, both she and Ron have remained incredibly positive. Because her atrophied eye muscles make reading impossible, Suzanne now listens to books on tape and watches TV. For fun together, the couple has taken several cruises since her diagnosis and has another one planned to sail around the tip of South America.

The 12-Site Study

Sites involved in the national study are UCSD; the Parkinson’s Institute, Sunnyvale, California; University of Maryland; Boston University; University of Michigan; Albert Einstein College of Medicine; Mayo Clinic; University of Rochester; University Hospitals of Cleveland; University of Pennsylvania; Baylor College of Medicine; and University of Virginia.

Volunteers in the study will be asked to answer questions about toxin exposure, behavioral and dietary habits, medical history including head trauma and medication use, family history and residential and occupational history. MSA patients and control subjects will be asked to give a blood sample for genetic studies.

Additional Background

No broad, comprehensive study has yet been done to identify environmental and genetic risk factors that may contribute to the development of MSA.

The degeneration in MSA affects multiple areas of the central nervous system. A small number of currently available therapies can ameliorate certain symptoms (such as levodopa for the Parkinsonism movement disorders, and fludrocortisone and midodrine for blood pressure). However, the benefits of these therapies are modest.

Although the researchers believe it is too soon to speculate about the possible cause or causes of the disorder, they note that the brains of most MSA patients have an abnormal aggregation of a protein called alpha-synuclein. One of the projects within the current study is an investigation of alpha-synuclein to determine how and why it aggregates.

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Dr. Shults, Don Summers, and Ron and Suzanne Rogers are available for interviews. Call Sue Pondrom at (619) 543-6202 to arrange.

Many MSA patients and caregivers will attend the national MSA Conference Dec. 6, 2003 in San Diego. For more information, see http://www.shy-drager.org.

MSA patients and caregivers can obtain additional information from the MSA support group at (866) 737-4999.

Media Contacts: Sue Pondrom (619) 543-6163