Gene Therapy for Amyotrophic Lateral Sclerosis


Amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig's disease, is a chronic, neurodegenerative disease with no known cure. ALS is characterised by the loss of both upper and lower motor neurons. On becoming symptomatic, patients with ALS survive between 1–5 years. The aetiology and pathogenesis of ALS is complex and can vary among cases; however, some forms of ALS have been identified to be genetic in origin. In particular, 20% of familial ALS cases have been attributed to a gain‐of‐function mutation in the SOD1 gene. Thus, gene therapy has been an attractive method to potentially treat ALS. The intention of this article is to provide the reader a summary of common gene therapy strategies for ALS.

Key Concepts:

  • Amyotrophic lateral sclerosis is a progressive neurodegenerative disease with no known cure.

  • ALS exists in two forms: familial ALS and sporadic ALS.

  • Twenty per cent of fALS cases are due to a mutation in the SOD1 gene.

  • SOD1 murine models have been valuable in the advancement of gene therapy for ALS.

  • Gene therapy is a promising therapeutic option for ALS.

Keywords: amyotrophic lateral sclerosis; motor neuron disease; gene therapy; viral vectors; SOD1 model


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Further Reading

Nizzardo M, Simone C, Falcone M et al. (2012) Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis. Cellular and Molecular Life Sciences 69: 1641–1650.

O'Connor DM and Boulis NM (2012) Cellular and molecular approaches to motor neuron therapy in amyotrophic lateral sclerosis and spinal muscular atrophy. Neuroscience Letters 527: 78–84.

Steinmetz MP, Liu JK and Boulis NM (2005) Cellular and gene therapy approaches to spinal cord injury. In: Freese A, Simeone FA, Janson C and Leone P (eds) Principles of Molecular Neurosurgery, pp. 65–103. Basel, Switzerland: Karger Publishers.

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McEachin, Zachary, O'Connor, Deirdre, and Boulis, Nicholas(Sep 2013) Gene Therapy for Amyotrophic Lateral Sclerosis. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0025022]