Genetic markers of ALS

摘要

As a result of the advances made in the field of molecular and population genetics, it is anticipated that several genes underlying ALS or predisposing to ALS might be identified in the near future. This will enable physicians to establish a diagnosis of ALS based on molecular findings in addition to clinical and electrophysiological findings. At present, mutations in the gene encoding for the free radical scavenging enzyme, superoxide dismutase (SOD1), is the only basis for a molecular diagnosis. Other mutations are under investigation and confirmed results are eagerly awaited.