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Genetics of ALS

  • Chapter
Movement Disorder Genetics

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Abstract

Amyotrophic lateral sclerosis (ALS) is genetically heterogeneous, with extensive phenotypic diversity and overlap with related clinical phenotypes. Although many genes have been identified that are mutated in ALS with many more implicated in the disease, the genetic cause for a large proportion of ALS risk remains to be discovered. The underlying biological mechanisms that converge on ALS are only partially understood but it is likely that aberrant RNA processing and protein homeostasis play central roles. Future research into the undiscovered genetic contribution to ALS will shed further light on these pathogenic mechanisms, as well as providing a complete catalog of the causes of the disease, which will, hopefully, contribute towards the development of a cure for this devastating condition.

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  1. Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland

    Russell Lewis McLaughlin BSc, HDip, PhD

  2. Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland

    Kevin Patrick Kenna BSc, PhD

  3. Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin 2, Ireland

    Orla Hardiman BSc, MD

Authors
  1. Russell Lewis McLaughlin BSc, HDip, PhD
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  2. Kevin Patrick Kenna BSc, PhD
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  3. Orla Hardiman BSc, MD
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Corresponding author

Correspondence to Russell Lewis McLaughlin BSc, HDip, PhD .

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Editors and Affiliations

  1. Department of Neurology, University Hospital Kiel, Kiel, Germany

    Susanne A. Schneider

  2. Department of Molecular Neuroscience, University College London, Institute of Neurology, London, United Kingdom

    José M. Tomás Brás

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© 2015 Springer International Publishing Switzerland

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McLaughlin, R.L., Kenna, K.P., Hardiman, O. (2015). Genetics of ALS. In: Schneider, S., Brás, J. (eds) Movement Disorder Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-17223-1_17

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  • DOI: https://doi.org/10.1007/978-3-319-17223-1_17

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17222-4

  • Online ISBN: 978-3-319-17223-1

  • eBook Packages: MedicineMedicine (R0)

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