Robert Baloh, MD, PhD on Brain Blogger:
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with no real disease-modifying therapy. Only until recently did we attribute a small portion of individuals with ALS with a genetic basis. Research from Robert Baloh, MD, PhD, Director of Neuromuscular Medicine at Cedars-Sinai, and colleagues at Washington University in St. Louis, discovered the much larger role of genetics in ALS. Here, I interview Baloh on his findings.
Shaheen Lakhan: Can you provide us with an overview of ALS?
Robert Baloh: ALS, amyotrophic lateral sclerosis, is a neuromuscular disorder: It attacks nerve cells in the brain, brainstem and spinal cord that control muscles. The timing and sequence of progression is unpredictable, but it often begins in the arms or legs and eventually affects the breathing muscles in the chest.
ALS is often considered a very rare disease, but it probably is about as common as other neurodegenerative diseases, such as Parkinson’s disease. The reason ALS seems rare is that few patients survive long—people generally live only three to five years after onset—so unlike other disorders, there is not a growing number of patients living with the disease.
The disorder often is called Lou Gehrig’s disease after the New York Yankees’ first baseman who died of ALS in 1941. Even today, no significant disease-slowing treatments have been found, but we are able to offer therapies that improve patient quality of life. In recent years, there has been a surge in research to find the underlying genetic, molecular and cellular changes that cause the disease. With those discoveries, we expect to begin developing effective interventions.
Research funding increased dramatically when the ALS Ice Bucket Challenge brought much greater attention to finding cures for ALS.
SL: Is ALS inheritable?
RB: Yes, some cases are. Until very recently, we believed that about 10 percent of ALS cases had a genetic origin—there was a family history of the disease. The remaining 90 percent or so were considered “sporadic.”