Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3

Jaimin S. Shah; Devon I. Rubin; Elliot L. Dimberg; Christina R. Owens; Angelica R. Gicalone; Gleydiane De Oliveira; Björn E. Oskarsson

doi:10.1097/NRL.0000000000000284

Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3

Jaimin S. Shah, Devon I. Rubin, Elliot L. Dimberg, Christina R. Owens, Angelica R. Gicalone, Gleydiane De Oliveira, Björn E. Oskarsson

Neurology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	141-143
Number of pages	3
Journal	The neurologist
Volume	25
Issue number	5
DOIs	https://doi.org/10.1097/NRL.0000000000000284
State	Published - Sep 1 2020

ASJC Scopus subject areas

Clinical Neurology

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title = "Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3",

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.",

author = "Shah, {Jaimin S.} and Rubin, {Devon I.} and Dimberg, {Elliot L.} and Owens, {Christina R.} and Gicalone, {Angelica R.} and {De Oliveira}, Gleydiane and Oskarsson, {Bj{\"o}rn E.}",

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doi = "10.1097/NRL.0000000000000284",

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T1 - Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3

AU - Shah, Jaimin S.

AU - Rubin, Devon I.

AU - Dimberg, Elliot L.

AU - Owens, Christina R.

AU - Gicalone, Angelica R.

AU - De Oliveira, Gleydiane

AU - Oskarsson, Björn E.

PY - 2020/9/1

Y1 - 2020/9/1

N2 - 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.

AB - 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.

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Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3

Abstract

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