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Utility of next-generation sequencing in ataxias

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New research indicates that next-generation sequencing (NGS) can improve the diagnostic yield in a highly selected group of patients with ataxia, following comprehensive exclusion work-up of other causes. However, routine practical application of NGS will depend on refinement of current technologies to facilitate data interpretation, and cost-effectiveness analysis in different patient groups.

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References

  1. Jayadev, S. & Bird, T. D. Hereditary ataxias: overview. Genet. Med. 15, 673–683 (2013).

    Article  CAS  Google Scholar 

  2. Tan, E.-K. & Ashizawa, T. Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch. Neurol. 58, 191–195 (2001).

    Article  CAS  Google Scholar 

  3. Hersheson, J., Haworth, A. & Houlden, H. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum. Mutat. 33, 1324–1332 (2012).

    Article  CAS  Google Scholar 

  4. Bettencourt, C. & Lima, M. Machado–Joseph disease: from first descriptions to new perspectives. Orphanet J. Rare Dis. 6, 35 (2011).

    Article  Google Scholar 

  5. Foo, J.-N., Liu, J.-J. & Tan, E.-K. Whole-genome and whole-exome sequencing in neurological diseases. Nat. Rev. Neurol. 8, 508–517 (2012).

    Article  CAS  Google Scholar 

  6. Foo, J. N., Liu, J. & Tan, E.-K. Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Hum. Genet. 132, 721–734 (2013).

    Article  CAS  Google Scholar 

  7. Liew, W. K. et al. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 70, 788–791 (2013).

    Article  Google Scholar 

  8. Németh, A. H. et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 136, 3106–3118 (2013).

    Article  Google Scholar 

  9. Fogel, B. L., Vickrey, B. G., Walton-Wetzel, J., Lieber, E. & Browner, C. H. Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia. Genet. Test. Mol. Biomarkers 17, 588–594 (2013).

    Article  Google Scholar 

  10. Martindale, J. E., Seneca, S., Wieczorek, S. & Sequeiros, J. Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Hum. Mutat. 33, 1359–1365 (2012).

    Article  CAS  Google Scholar 

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Acknowledgements

The author acknowledges support from the National Medical Research Council, Singapore Millennium Foundation and Duke-NUS Graduate Medical School.

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  1. Department of Neurology, National Neuroscience Institute, Duke-NUS Graduate Medical School, Outram Road, The Academia, Level 4, 169608, Singapore

    Eng-King Tan

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  1. Eng-King Tan
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The author declares no competing financial interests.

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Tan, EK. Utility of next-generation sequencing in ataxias. Nat Rev Neurol 9, 614–615 (2013). https://doi.org/10.1038/nrneurol.2013.212

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