An MDA-supported team of scientists has identified specific changes that occur in the spinal cord prior to disease onset in people with familial (inherited) ALS related to mutations in the SOD1 gene.
The team, which included MDA grantee Michael Benatar, reported their findings in the Oct. 3, 2011, issue of Neurology. (Read the abstract of the paper, Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS.)
The researchers found reductions in the levels of the small molecules creatine and myo-inositol in the spines of 24 people with an ALS-associated SOD1 mutation (but no ALS symptoms), and in 24 people with active ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). The changes did not occur in the control group, comprised of 29 healthy volunteers.
If further testing corroborates the new findings, the observed spinal cord changes possibly could serve as biomarkers, indicating the presence of ALS before symptoms appear. This potentially could allow for treatment with therapies designed to prevent onset of ALS.