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Journal article : Review

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

Abstract:

Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants. The most severe and most common form, type 1 SMA, is associated with early mortality in most cases and severe disability in survivors. Nusinersen, an antisense oligonucleotide, promotes production of full-length protein from the pseudogene SMN2. Nusinersen treatment prolongs survival of patients with type 1 SMA and allows motor mileston...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1111/dmcn.14027

Authors


More by this author
Division:
MSD
Department:
Paediatrics
Oxford college:
Kellogg College
Role:
Author
ORCID:
0000-0001-9270-4061
Publisher:
Wiley Publisher's website
Journal:
Developmental Medicine and Child Neurology Journal website
Volume:
61
Issue:
1
Pages:
19-24
Publication date:
2018-09-17
Acceptance date:
2018-07-25
DOI:
EISSN:
1469-8749
ISSN:
0012-1622
Pmid:
30221755
Language:
English
Keywords:
Subtype:
Review
Pubs id:
1092840
Local pid:
pubs:1092840
Deposit date:
2020-03-12

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