Cited by 140Neurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

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Spinal muscular atrophy—recent therapeutic advances for an old challenge

Faravelli, Irene, Nizzardo, Monica, Comi, Giacomo P., Corti, Stefania·2015·Nature Reviews Neurology

DOI 10.1038/nrneurol.2015.77

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Abstract

In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt.1610 · Cited by 688
Retracted
Identification and characterization of a spinal muscular atrophy-determining gene
Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Bénichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,995
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
Lorson, C. L., Hahnen, E., Androphy, E. J., & Wirth, B. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.11.6307 · Cited by 1,536
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Foust, K. D., Nurre, E., Montgomery, C. L., Hernandez, A., Chan, C. M., & Kaspar, B. K. (2009) · Nature Biotechnology · doi:10.1038/nbt.1515 · Cited by 1,456
Induced pluripotent stem cells from a spinal muscular atrophy patient
Ebert, A. D., Yu, J., Rose, F. F., Mattis, V. B., Lorson, C. L., Thomson, J. A., & Svendsen, C. N. (2009) · Nature · doi:10.1038/nature07677 · Cited by 1,441
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T. F., & Wirth, B. (2002) · The American Journal of Human Genetics · doi:10.1086/338627 · Cited by 1,005
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Wang, C. H., Finkel, R. S., Bertini, E., Schroth, M. K., Simonds, A. K., Wong, B. L. Y., Aloysius, A., Morrison, L. A., Main, M. L., Crawford, T. O., et al. (2007) · Journal of Child Neurology · doi:10.1177/0883073807305788 · Cited by 964
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
Monani, U. R. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1177 · Cited by 951
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
Monani, U. R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.333 · Cited by 745
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C. F., & Krainer, A. R. (2011) · Nature · doi:10.1038/nature10485 · Cited by 744

Show all 114 references

Research works printed but not linked: 2

Mitrpant, C. et al. Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PLoS ONE 8, e62114 (2013). · DOI
Titus, S. et al. High throughput screening for SMA. Probe Reports from the NIH Molecular Libraries Program [online] , (2010).

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Authors: Faravelli, I., Nizzardo, M., Comi, G. P., & Corti, S.
Affiliations: University of Milan (IT)
Corresponding author: Corti, Stefania
ORCID: Faravelli, Irene
Nizzardo, Monica
Comi, Giacomo P.
Corti, Stefania
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2015-05-19
Volume: 11
Issue: 6
Pages: 351-359
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/nrneurol.2015.77
OpenAlex: W1518213415
Cited by: 138
References: 114
Citations by year: 2026: 4 · 2025: 6 · 2024: 6 · 2023: 7 · 2022: 7 · 2021: 15 · 2020: 8 · 2019: 15 · 2018: 19 · 2017: 20 · 2016: 25 · 2015: 6
FWCI: 3.28
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords: spinal muscular atrophy, SMN protein, disease-modifying therapy, gene therapy, antisense oligonucleotides, small molecules, stem cell transplantation, clinical trials
MeSH terms: Animals, Clinical Trials as Topic, Diagnosis, Differential, Humans, Motor Neurons, Muscular Atrophy, Spinal, Oligonucleotides, Antisense, SMN Complex Proteins

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Spinal muscular atrophy—recent therapeutic advances for an old challenge

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