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Information × Registration Number 2125U004878, Article popup.category Стаття Title Adult-onset spinal muscular atrophy in a patient with SOD1 mutation: case report Adult-onset spinal muscular atrophy in a patient with SOD1 mutation: clinical case (AI translated) popup.author Mykhailova M.Prokopiv M.Illyash T.Mykhailova M.Prokopiv M.Illyash T. popup.publication 01-01-2025 popup.source_user Національний медичний університет імені О. О. Богомольця popup.source http://ir.librarynmu.com/handle/123456789/16851 popup.publisher International Neurological Journal (Ukraine) Vol. 21, No. 1, 2025 Description Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are distinct motor neuron disorders with overlapping molecular mechanisms. ALS involves progressive upper and lower motor neuron degeneration, while SMA primarily affects lower motor neurons. Mutations in SOD1 (superoxide dismutase 1), a well-established cause of familial ALS, have been identified in patients with atypical motor neuron disease phenotypes, suggestive of their broader role in motor neuron dysfunction. popup.nrat_date 2026-04-22 Close