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Barriers to Tofersen Therapy for Variant SOD1-Mediated ALS | Amyotrophic Lateral Sclerosis | JAMA Neurology | vlog

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ٴDz7, 2024

Barriers to Tofersen Therapy for Variant SOD1-Mediated ALS

Author Affiliations
  • 1Houston Methodist Neurological Institute, Houston Methodist Research Institute, Stanley H. Appel Department of Neurology, Houston Methodist Hospital, Houston, Texas
JAMA Neurol. Published online October 7, 2024. doi:10.1001/jamaneurol.2024.3331

Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease with selective loss of upper and lower motor neurons, resulting in progressive impairment of limb strength, speech, swallowing, and respiration. Life expectancy is severely reduced by an average of about 2 to 5 years after diagnosis. Approximately 2% of people with ALS carry a pathogenic sequence variation in the Cu/Zn-superoxide dismutase 1 (SOD1) gene.1 The National ALS Registry estimated that 29 824 individuals in the US were living with ALS in 2018, which suggests there were approximately 600 symptomatic patients with SOD1-mediated ALS (SOD1-ALS), as well as a much larger pool of at-risk asymptomatic relatives.2

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