Amyotrophic lateral sclerosis with superoxide dismutase gene mutation

Amyotrophic lateral sclerosis with superoxide dismutase gene mutation (SOD1-ALS) is a rare, genetically defined subtype of amyotrophic lateral sclerosis characterized by mutations in the *SOD1* gene, which accounts for approximately 10% to 20% of familial cases and a small fraction of sporadic disease

Amyotrophic lateral sclerosis with superoxide dismutase gene mutation (SOD1-ALS) is a rare, genetically defined subtype of amyotrophic lateral sclerosis characterized by mutations in the *SOD1* gene, which accounts for approximately 10% to 20% of familial cases and a small fraction of sporadic disease Pathophysiologically, pathogenic variants promote the misfolding, toxic accumulation, and aggregation of superoxide dismutase protein, triggering neuroinflammation, axonal degeneration, and motor n...

This progressive neurodegenerative disorder targets both upper and lower motor neurons within the motor cortex, brainstem, and spinal cord

This progressive neurodegenerative disorder targets both upper and lower motor neurons within the motor cortex, brainstem, and spinal cord

Pathophysiologically, pathogenic variants promote the misfolding, toxic accumulation, and aggregation of superoxide dismutase protein, triggering neuroinflammation, axonal degeneration, and motor neuron apoptosis

Pathophysiologically, pathogenic variants promote the misfolding, toxic accumulation, and aggregation of superoxide dismutase protein, triggering neuroinflammation, axonal degeneration, and motor neuron apoptosis

Clinically, affected individuals present with relentless muscle weakness, fasciculations, muscle atrophy, spasticity, and eventual paralysis, which progressively impairs mobility, speech, swallowing, and respiratory function