AI Summary
In people with ALS, targeting C9orf72 could potentially offer a new avenue for treatment. ALS is a devastating disease that leads to paralysis and ultimately death, often due to respiratory failure. Cognitive and behavioral symptoms can also manifest in some individuals. By focusing on C9orf72, researchers aim to address the underlying mechanisms of ALS and potentially develop more effective therapies.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Clinical symptoms include rapidly progressive atrophy and paralysis of all skeletal muscles, including the diaphragm, ultimately resulting in death by respiratory failure within a few years of symptom onset; non-motor symptoms, particularly cognitive and behavioural symptoms, also occur in up to 50% of people with the disease.