Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3. Issue 5 (September 2020)

• Record Type: Journal Article
• Authors: Shah, Jaimin S.; Rubin, Devon I.; Dimberg, Elliot L.; Owens, Christina R.; Gicalone, Angelica R.; De Oliveira, Gleydiane; Oskarsson, Björn E.
• Is Part Of: Neurologist. Volume 25:Issue 5(2020)
• Publication Date: 2020-09
• Subjects: muscular atrophy -- spinal -- nusinersen -- oligonucleotides/therapeutic use -- oligonucleotides -- antisense; Nervous System Diseases -- Periodicals; Nervous system -- Diseases -- Periodicals; Neurologie; 616.8
• DOI: 10.1097/NRL.0000000000000284
• Languages: English
• ISSNs: 1074-7931

Abstract

Abstract : Introduction: Nusinersen antisense oligonucleotide infusions have been shown to be effective in the treatment spinal muscular atrophy. The majority of the evidence has been collected in young type 1 and type 2 patients, and evidence of efficacy in adult patients is limited. Case Report: A 48-year-old woman with spinal muscular atrophy type 3 who has received the loading dose and 8 maintenance infusions over an 8-month period. Grip and pinch strength, measured by hand-held dynamometry measured at baseline and in 6 to 12 months interval improved over a 24-month period. She also reported multiple other subjective improvements in function. Conclusions: This is the first published case of nusinersen in a middle-aged adult with spinal muscular atrophy. Sustained clinically meaningful improvement may be possible with nusinersen initiation in mid adulthood.