National study seeks cause of baffling, fatal disorder

University of Michigan Health System
Monday, 8 December 2003

UMHS is one of 12 sites taking part in research on multiple system atrophy

A better understanding of a baffling, frequently misdiagnosed disease called multiple system atrophy, or MSA, will be sought by researchers at 12 sites in the United States, including the University of Michigan Health System, as part of a five-year, $7 million grant from the National Institutes of Health.

A devastating disease with multiple symptoms and no cure, MSA strikes people in middle age. Treatment can target the symptoms but cannot halt the disease's course. Most patients die within seven to 10 years.

Coordinated by the University of California, San Diego 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.

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

He adds that it's unrealistic to think 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 that are common to people with MSA 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.

Sid Gilman, M.D., professor and chair of the Department of Neurology at U-M Medical School, will lead efforts in Ann Arbor, focusing specifically on the cerebellar dysfunction type of the disease. Gilman runs a weekly clinic at UMHS for people with MSA.

"MSA mimics Parkinson's disease in some ways, and so we suspect that much like Parkinson's, there are environmental risk factors for MSA, such as industrial chemicals," Gilman says.

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.

In addition to UMHS and UCSD, sites involved in the national study are the Parkinson's Institute in California, the University of Maryland, Boston University, Albert Einstein College of Medicine, the Mayo Clinic, the University of Rochester, University Hospitals of Cleveland, the University of Pennsylvania, Baylor College of Medicine, and the University of Virginia.

Volunteers in the study will 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.

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

For more information on MSA, contact the UMHS Ataxia Clinic at (734) 936-9010.

For more information, or to contact University of Michigan Health System, see their website at:

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