黑料网

Abstract

pinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 (Survival Motor Neuron 1) gene, which leads to a deficiency of the SMN protein. This deficiency affects motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. While SMA is primarily characterized by spinal motor neuron degeneration, recent studies have shown that the brain may also be affected, particularly in terms of macrostructural abnormalities. These findings offer new insights into how SMA impacts the central nervous system and the broader neurodevelopmental landscape of the disorder.