U.S. researchers said Monday they had found a quicker way to diagnose a paralyzing muscle disease called ALS, perhaps in time for drugs to delay its fatal progression.
Amyotrophic lateral sclerosis, or Lou Gehrig’s disease, is usually diagnosed after a patient has been suffering from its symptoms for months. ALS, part of a group of diseases called Motor Neuron Disease, causes progressive paralysis but the symptoms are not clear at first.
A team at the University of Pittsburgh said they had identified a kind of protein fingerprint, called a biomarker, that can tell right away that someone has the deadly and incurable condition.
One drug, Rilutek, known generically as riluzole, is approved for use in treating ALS patients and some studies have suggested it works best when used early.
Dr. Robert Bowser and colleagues examined the cerebrospinal fluid of 25 patients recently diagnosed with ALS and 35 people without ALS.
Some of ALS-free “controls” had other neurological diseases that looked something like ALS, including muscle weakness and loss of motor function.
Protein pattern unique to ALS patients
Bowser’s team used protein chips and computer programs to identify a pattern of protein activity that was unique to the ALS patients.
Proteins are produced by cells based on genetic instructions and perform all the body’s functions.
The 10 proteins and their pattern of production could make for an easy ALS test that could give an answer within a few hours, Bowser told a meeting of the American Physiological Society, part of a larger conference in Washington called Experimental Biology 2004.
The new assay needs to be given to larger groups, while separate tests also need to be carried out to see if it can predict who, with early symptoms, has ALS before they are formally diagnosed.
Bowser’s team is also working to find out what each of the proteins does, specifically, in cells.
ALS affects an estimated 100,000 people worldwide and at least 5,000 people are diagnosed every year in the United States.
The baseball player Lou Gehrig, with whom ALS is most commonly associated, died of the disease in 1941.