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  • Lou Gehrig’s disease could be diagnosed earlier

Apr 2009
Amanda D. Francoeur,

HERSHEY, Pa. – Lou Gehrig’s disease is the degeneration of nerve cells in the spinal cord, and it negatively and irreversibly affects muscle function. Now scientists have discovered that inflammatory proteins found in the spine are biomarkers for the progression of the disorder.

Associating the inflammation with the illness may help provide a faster diagnosis and ultimately earlier treatment. Although there is no cure for Lou Gehrig’s disease, also known as amyotrophic lateral sclerosis (ALS), this discovery could save nerve cells from deteriorating and slow the development of ALS.

“The idea is that if we can identify someone with ALS sooner with using our biomarker profile to support the clinical diagnosis, then clinicians would be comfortable offering treatments sooner,” said Dr. James Connor, distinguished professor and vice chairman of neurosurgery at Penn State Hershey Medical Center.

Currently, for a patient to be diagnosed with ALS, his disease must progress until his symptoms include significant muscle weakness. ALS is difficult to recognize because there is no diagnostic test, and it can be confused with other disorders involving muscle weakness and possible nerve cell damage, such as primary lateral sclerosis, spinal muscular atrophy and pseudobulbar palsy.

Approximately 5600 people a year are diagnosed with Lou Gehrig’s disease, and as many as 30,000 people in the US are currently afflicted, according to the ALS Association.


Connor and fellow researchers from Hershey Medical Center and Penn State University Park conducted a study by examining cerebrospinal fluid samples from 41 ALS patients as compared with samples from 33 patients with non-ALS muscular problems. The investigators found that the spinal fluid from the ALS patients had a higher degree of inflammatory proteins than that of the control group.

In the cerebrospinal fluid of ALS patients, 11 proteins that bind to receptor proteins and that characterize blood cells as white or red were found at considerably higher levels than in the control group, while two proteins in the control group’s spinal fluid were at much higher levels than in the ALS patients. Altogether, 14 biomarkers were studied in the two groups. According to Connor, the proteins under study are smaller than most other proteins in the spinal cord and, as a result, they are likely to be overlooked in large-scale protein studies.

ALS patients were found to have five significant proteins that, because of their low p values, were distinguishable from proteins in control patients. Each of the five was linked to ALS progression. The scientists were able to differentiate the two groups with 89.2 percent accuracy and 91.2 percent specificity. The findings were published January 2009 in Neurology.

Other ALS studies have examined biomarkers, but many of these techniques require an abundance of proteins. The difference in Connor’s study was that he included inflammatory associated analytes, which could suggest ALS in its early stages. He said that his group’s study compares favorably to and often is better than other biomarker attempts to diagnose ALS.

According to Connor, he and his team are currently enhancing their research by broadening their constituency beyond the Penn State Hershey clinic to include more patients with conditions that mirror ALS. The new study is intended to confirm the biomarkers’ potential over a wider panel by providing more evidence and support for the method.

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