Therapeutic advances in 5q-linked spinal muscular atrophy
ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical vari...
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000400265&lng=en&tlng=en |
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| author | Umbertina Conti Reed Edmar Zanoteli |
| author_facet | Umbertina Conti Reed Edmar Zanoteli |
| author_sort | Umbertina Conti Reed |
| collection | DOAJ |
| description | ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies. |
| format | Article |
| id | doaj-art-43f8783e7c854a87b26f93e6c3be5e8d |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-43f8783e7c854a87b26f93e6c3be5e8d2025-08-20T02:05:50ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-422776426527210.1590/0004-282x20180011S0004-282X2018000400265Therapeutic advances in 5q-linked spinal muscular atrophyUmbertina Conti ReedEdmar ZanoteliABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000400265&lng=en&tlng=enatrofia muscular espinhaldoença do neurônio motoroligonucleotídeos antissensoterapia genética |
| spellingShingle | Umbertina Conti Reed Edmar Zanoteli Therapeutic advances in 5q-linked spinal muscular atrophy Arquivos de Neuro-Psiquiatria atrofia muscular espinhal doença do neurônio motor oligonucleotídeos antissenso terapia genética |
| title | Therapeutic advances in 5q-linked spinal muscular atrophy |
| title_full | Therapeutic advances in 5q-linked spinal muscular atrophy |
| title_fullStr | Therapeutic advances in 5q-linked spinal muscular atrophy |
| title_full_unstemmed | Therapeutic advances in 5q-linked spinal muscular atrophy |
| title_short | Therapeutic advances in 5q-linked spinal muscular atrophy |
| title_sort | therapeutic advances in 5q linked spinal muscular atrophy |
| topic | atrofia muscular espinhal doença do neurônio motor oligonucleotídeos antissenso terapia genética |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000400265&lng=en&tlng=en |
| work_keys_str_mv | AT umbertinacontireed therapeuticadvancesin5qlinkedspinalmuscularatrophy AT edmarzanoteli therapeuticadvancesin5qlinkedspinalmuscularatrophy |