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Translational Neuroscience


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2081-6936
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Treatment strategies for spinal muscular atrophy

1Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK

2Institute of Science and Technology in Medicine, Keele University, Keele, UK

3Department of Ophthalmology, University Hospital Center “Zagreb”, Zagreb, Croatia

4Department of Paediatrics, Zagreb-East Medical Center, Zagreb, Croatia

5Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb Medical School, Zagreb, Croatia

© 2010 Versita Warsaw. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License. (CC BY-NC-ND 3.0)

Citation Information: Translational Neuroscience. Volume 1, Issue 4, Pages 308–321, ISSN (Online) 2081-6936, ISSN (Print) 2081-3856, DOI: 10.2478/v10134-010-0045-4, December 2010

Publication History

Published Online:
2010-12-31

Abstract

Progress in understanding the genetic basis and pathophysiology of spinal muscular atrophy (SMA), along with continuous efforts in finding a way to increase survival motor neuron (SMN) protein levels have resulted in several strategies that have been proposed as potential directions for efficient drug development. Here we provide an overview on the current status of the following approaches: 1) activation of SMN2 gene and increasing full length SMN2 transcript level, 2) modulating SMN2 splicing, 3) stabilizing SMN mRNA and SMN protein, 4) development of neurotrophic, neuroprotective and anabolic compounds and 5) stem cell and gene therapy. The new preclinical advances warrant a cautious optimism for emergence of an effective treatment in the very near future.

Keywords: Clinical trials; Spinal muscular atrophy; SMN1 gene; SMN2 gene; SMN protein; Treatment; Therapy

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