The role of vascular pathology in SMA: implications for pathogenesis and treatment. (PubMed, Front Cell Neurosci) - Oct 24, 2026 - "As more than 98% of SMA cases arise from mutations in the SMN1 gene, restoration of SMN expression through nusinersen (Spinraza; Biogen, Cambridge, MA), risdiplam (Evrysdi; Roche, Basel, Switzerland) and onasemnogene abeparvovec (Zolgensma and Itvisma; AveXis, Novartis, Chicago, IL) has produced unprecedented clinical benefits and established SMA as the first treatable motor neuron disease...Collectively, the evidence suggests that SMN-dependent vascular pathology may represent an under-recognized feature of SMA pathogenesis and a potential therapeutic target. Here, we review the current evidence for vascular pathology in SMA, discuss its implications for disease progression, long-term patient outcomes and therapeutic response, and consider whether vascular abnormalities are adequately addressed by existing SMN-restorative therapies."
Journal • Review • Amyotrophic Lateral Sclerosis • CNS Disorders • Gastrointestinal Disorder • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMA4 • SMN1
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Hazel Allardyce; Simon H Parson
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