Distinctive Inflammatory Signature Found in a Genetic Form of ALS; Researchers Find Increase in Inflammatory Molecules in Serum and Cerebrospinal Fluid of C9orf72 Patients, Informing Future Anti-Inflammatory Therapies

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease (named after famous American baseball player who died of the disease), is a neurodegenerative disease that strikes nearly 5,000 people in the U.S. every year. About 10% of ALS cases are inherited or familial, often caused by an error in the C9orf72 gene. Compared to sporadic or non-familial ALS, C90rf72 patients are considered to have a more aggressive disease course. Evidence points to the immune system in disease progression in C90rf72 patients, but we know little of what players are involved. New research from the Jefferson Weinberg ALS Center of Jefferson Health in Philadelphia identified an increased inflammatory signal in C90rf72 patients compared to other ALS patients, pointing to immune characteristics that distinguish this subgroup of ALS patients and informing potential anti-inflammatory therapies. The study was published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration on April 30th, 2021. The article is titled “Increased Synthesis of Pro-Inflammatory Cytokines in C9ORF72 Patients.”