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Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1074))

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, inherited lysosomal storage disorders mostly affecting the central nervous system of children. Symptoms include vision loss, seizures, motor deterioration and cognitive decline ultimately resulting in premature death. Studies in animal models showed that the diseases are amenable to gene supplementation therapies, and over the last decade, major advances have been made in the (pre)clinical development of these therapies. This mini-review summarises and discusses current gene therapy approaches for NCL targeting the brain and the eye.

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Author information

Authors and Affiliations

  1. UCL Institute of Ophthalmology, Department of Genetics & NIHR BRC at Moorfields Eye Hospital, London, UK

    Sophia-Martha kleine Holthaus, Alexander J. Smith & Robin R. Ali

  2. MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, Department of Genetics, Evolution and Environment, University College London, London, UK

    Sophia-Martha kleine Holthaus & Sara E. Mole

Authors
  1. Sophia-Martha kleine Holthaus
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  2. Alexander J. Smith
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  3. Sara E. Mole
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  4. Robin R. Ali
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Corresponding author

Correspondence to Sophia-Martha kleine Holthaus .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Florida, Gainesville, Florida, USA

    John D. Ash

  2. Ophthalmology and Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  3. School of Medicine Beckman Vision Center, University of California San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  4. Departments of Ophthalmology and Cell Biology, Duke Eye Center, Duke University Medical Center, Durham, North Carolina, USA

    Catherine Bowes Rickman

  5. Division of Ophthalmology, Case Western Reserve University, Cleveland, Ohio, USA

    Joe G. Hollyfield

  6. Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

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kleine Holthaus, SM., Smith, A.J., Mole, S.E., Ali, R.R. (2018). Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. In: Ash, J., Anderson, R., LaVail, M., Bowes Rickman, C., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 1074. Springer, Cham. https://doi.org/10.1007/978-3-319-75402-4_12

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