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Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

  • Genetics (V Bonifati, Section Editor)
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Abstract

Neurological disorders secondary to single gene mutations are an extremely heterogeneous group of diseases, individually rare, and often associated with progressive and severe disability. Given the degree of both clinical and genetic heterogeneity, next-generation sequencing (NGS) has become an important diagnostic tool. Multi-gene panel testing based on NGS is now prominently used, while whole-exome sequencing and whole-genome sequencing are emerging to facilitate the molecular diagnosis for many genetic neurological diseases. Although single-gene testing remains an important first tier test for disorders with clear phenotype-genotype correlation, NGS provides an expanding unbiased approach to identify rare mutations in genes known to be associated with genetically heterogeneous diseases, and those not initially considered by the clinician due to rarity or atypical clinical presentation. Given the decreasing costs and relatively rapid time to results, NGS-based assessment is quickly becoming a standard-of-care test for patients with genetic neurological diseases.

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Compliance with Ethics Guidelines

Conflict of Interest

Jodi Warman Chardon, Chandree Beaulieu, Taila Hartley, Kym M. Boycott, and David A. Dyment each declare no potential conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Division of Neurology, The Ottawa Hospital, 1053 Carling Avenue, Ottawa, ON, K1Y 4E9, Canada

    Jodi Warman Chardon

  2. Department of Genetics, The Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada

    Jodi Warman Chardon, Kym M. Boycott & David A. Dyment

  3. Ottawa Hospital Research Institute, 725 Parkdale Avenue, Ottawa, ON, K1Y 4E9, Canada

    Jodi Warman Chardon

  4. Children’s Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada

    Chandree Beaulieu, Taila Hartley, Kym M. Boycott & David A. Dyment

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  1. Jodi Warman Chardon
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  2. Chandree Beaulieu
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  3. Taila Hartley
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  4. Kym M. Boycott
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Correspondence to Kym M. Boycott.

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Warman Chardon, J., Beaulieu, C., Hartley, T. et al. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. Curr Neurol Neurosci Rep 15, 64 (2015). https://doi.org/10.1007/s11910-015-0584-7

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  • DOI: https://doi.org/10.1007/s11910-015-0584-7

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