ALS or Lou Gehrig’s disease is a progressive, fatal disorder. ALS usually appears between the ages of 40 and 70, and affects more men than women. Approximately 30,000 Americans currently suffer from ALS, and roughly 5,600 Americans are newly diagnosed each year. Initial signs of ALS include twitching, cramping, weakness in the legs and arms, and difficulty speaking, chewing, or swallowing. As symptoms spread throughout the body, weight loss, fatigue, exaggerated reflexes, and decreased coordination become common. Ultimately, patients cannot walk, stand, eat, or breathe without assistance. While the disease does not impact a patient’s intellectual capacity, ALS patients have increased susceptibility to pneumonia and respiratory failure, and half of all patients die within three to five years of their diagnosis. ALS strikes the cells in the brain and spinal cord (motor neurons), which send signals to move muscles. We do not know how damage to motor neurons occurs. In some cases, a gene causes a mutation in a protein (called SOD1) that normally “cleans” up toxic particles inside a cell. When SOD1 is mutated, toxic particles accumulate inside motor neurons causing them to malfunction. This mutation, however only explains a few percent of cases of ALS; therefore, other mechanisms must be involved. There is no cure for ALS, and currently there is only one approved medicine (Riluzole) to treat the disease. While Riluzole may slow the disease for a few months, it has no lasting effect.
Renowned for his groundbreaking basic and clinical research on the inherited and genetic basis of neurodegenerative and neuromuscular diseases, Dr. Robert Brown has a record of significant discoveries in identifying gene defects that elucidate how ALS causes neurons to die. In 1993, a team of researchers led by Dr. Brown discovered the first gene linked to the inherited form of ALS, called SOD1.
Each year, it is estimated that 5,000 people in the United States are newly diagnosed with ALS, a progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain’s ability to send signals to the body’s muscles is compromised, leading to the loss of voluntary muscle movement, paralysis and eventually death from respiratory failure. The average survival rate for patients with ALS is three to five years.
ALS is a fundamentally untreatable disease, and its cause is still not entirely understood. About 10 percent of ALS cases arise because of inherited genetic defects. The cause of the remaining 90 percent of cases, known as sporadic ALS, is still unknown. One hypothesis is that in these cases, the disease is triggered by a combination of genetic susceptibility and exposure to one or more adverse environmental factors. For example, there is growing evidence that head trauma may predispose patients to ALS and related cognitive decline.
LDDN collaborator, chair of neurology at UMass Medical School in Worcester, MA, and leading ALS researcher Dr. Bob Brown (on right) takes the ice bucket challenge with UMASS Medical School Chancellor Michael Collins (on left)