Researchers discover new ALS gene
Researchers have found a new disease-causing mutation in people with amyotrophic lateral sclerosis in a small region of Spain.
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is a neurodegenerative disorder characterized by the progressive loss of motor neurons. Most cases of ALS have no known cause; however, 5–10% of cases are familial, and in 30% of these cases, there is no identified genetic cause. Now, researchers from Sant Pau Research Institute (IR Sant Pau) and Sant Pau Hospital (both Barcelona, Spain), led by Ricard Rojas-García, have identified a new mutation in the ARPP21 gene as a cause of ALS. The discovery opens the door to improved diagnostics and potential therapies.
