New Diagnostic Markers for ALS Found

Discovery will speed confirmation of Lou Gehrig's disease

MONDAY, April 19, 2004 (HealthDayNews) -- Researchers may have discovered a faster way to diagnose amyotrophic lateral sclerosis (ALS), the disease commonly known as Lou Gehrig's disease.

Researchers from the University of Pittsburgh and Massachusetts General Hospital found 10 protein biomarkers that are present in people who have recently been diagnosed with ALS that aren't present in people without the disease.

"Hopefully, down the road we can use the discovery of these biomarkers as a tool not only for diagnosing ALS, but also to find a drug or a combination of drugs to treat this disease," said study author Robert Bowser, an associate professor of pathology at the University of Pittsburgh School of Medicine.

Bowser presented the team's findings on April 18 at the Experimental Biology 2004 meeting in Washington, D.C.

ALS is a progressive disease that attacks nerve cells in the brain and spinal cord. It eventually leads to paralysis and death. The ALS Association estimates that 5,600 people in the United States are diagnosed with ALS every year.

Symptoms include weakness in the hands, arms or legs, often only on one side of the body. Tripping, dropping things, slurred speech, difficult projecting the voice and uncontrolled laughing or crying are also symptoms of ALS.

There's no cure for this disease, and the average survival after diagnosis is only three to five years, according to the ALS Association. There is only one drug available to treat the symptoms of Lou Gehrig's, and it's more effective if it's started early in the course of the disease.

Diagnosing ALS can be a difficult and time-consuming process. There is currently no specific test for ALS, so doctors must rule out many other disorders that share similar symptoms.

"There is an urgent need to find a faster and more reliable diagnostic process that will enable earlier treatment and improve chances that therapy will alter the course of ALS," Dr. Lucie Bruijn, science director and vice president of the ALS Association, said in a statement. The association is funding a larger study of the biomarkers.

For this study, Bowser and his colleagues collected cerebrospinal fluid from 25 people who had been recently diagnosed with ALS and from 35 control subjects. Some of the control subjects had neurologic disease with similar symptoms to ALS, but others had no neurologic symptoms.

Using a technique called proteomics, the researchers profiled all of the proteins in the spinal fluid, said Bowser. They found 10 protein biomarkers in the people with ALS that weren't present in the spinal fluid of the control group.

Besides a faster way to diagnose the disease, Bowser said this discovery also gives researchers a better insight into what changes occur in the body because of ALS. Bowser said they are currently enrolling people with the disease in a study to assess how these biomarkers change over the course of the disease.

Dr. Raina Ernstoff, a neurologist with William Beaumont Hospital in Royal Oak, Mich., said the results of this study look very promising, but that "an awful lot still needs to be done." She said the findings need to be replicated in a larger group, and she'd like to see how these biomarkers change as the disease progresses.

Ernstoff added that a test to quickly diagnose ALS would be "extraordinarily helpful." She said currently because there's no cure or very effective treatment for ALS, doctors must be extremely careful when making the diagnosis.

Dr. David Younger, an ALS specialist and neurologist at New York University Medical Center, said the biomarkers show "important potential," but added that any test for these biomarkers would have to be "of great benefit to patients to have a real value." Younger also added that any test would likely be labor-intensive and couldn't be done by every diagnostic center.

More information

To learn more about ALS, go to the ALS Association or to the National Institute of Neurological Disorders and Stroke.

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