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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia§

Authors

  • Brent L. Fogel MD PhD,

    Corresponding author
    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
    • University of California at Los Angeles, 695 Charles Young Drive South, Gonda Room 2506, Los Angeles, CA 90095
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  • Ji Yong Lee BS,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Jessica Lane AB,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Amanda Wahnich BS,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Sandy Chan MS,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Alden Huang BS,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Greg E. Osborn BS,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Eric Klein MSc,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Catherine Mamah MD,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Susan Perlman MD,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Daniel H. Geschwind MD, PhD,

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
    2. Department of Psychiatry, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
    3. Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Giovanni Coppola MD

    1. Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
    2. Department of Psychiatry, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
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  • Funding agencies: National Institute of Mental Health (NIMH) (K08MH86297 to B.L.F.) and the UCLA Program in Neurogenetics (to D.H.G.).

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.

Methods:

Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.

Results:

We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.

Conclusions:

The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society

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