The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2

Authors

  • Florian Brugger MD,

    1. Movement Disorders Center of Eastern Switzerland, Department of Neurology, Kantonsspital St.Gallen, St.Gallen, Switzerland
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  • Michael Schüpbach MD,

    1. Movement Disorders Center, Department of Neurology, University Hospital Berne, University of Berne, Berne, Switzerland
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  • Michel Koenig MD, PhD,

    1. Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg, France
    2. Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/Université de Strasbourg/INSERM, Illkirch, France
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  • René Müri MD, PhD,

    1. Perception and Eye Movement Laboratory, Departments of Neurology and Clinical Research, Inselspital, University Hospital Berne, Berne, Switzerland
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  • Stephan Bohlhalter MD,

    1. Perception and Eye Movement Laboratory, Departments of Neurology and Clinical Research, Inselspital, University Hospital Berne, Berne, Switzerland
    2. Neurology and Neurorehabilitation Center, Department of Internal Medicine, Luzerner Kantonsspital, Lucerne, Switzerland
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  • Alain Kaelin-Lang MD, PhD,

    1. Movement Disorders Center, Department of Neurology, University Hospital Berne, University of Berne, Berne, Switzerland
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  • Christian P. Kamm MD,

    1. Perception and Eye Movement Laboratory, Departments of Neurology and Clinical Research, Inselspital, University Hospital Berne, Berne, Switzerland
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  • Georg Kägi MD

    Corresponding author
    1. Movement Disorders Center of Eastern Switzerland, Department of Neurology, Kantonsspital St.Gallen, St.Gallen, Switzerland
    • Correspondence to: Dr. Georg Kägi, Kantonsspital St. Gallen, Department of Neurology, Rorschacherstrasse 95, St. Gallen CH-9007, Switzerland; E-mail: georg.kaegi@kssg.ch

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  • Relevant disclosures and conflicts of interest are listed at the end of this article.

Abstract

Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha-fetoprotein are nearly always elevated in AOA2 and thus narrowing down the differential diagnosis list. We present 3 video cases illustrating and expanding the clinical spectrum of AOA2, with 1 case bearing a novel mutation with cervical dystonia as the first symptom, the absence of neuropathy, and a disease onset beyond the age of 40. Furthermore, all patients were assessed by oculographic analysis, which revealed distinct patterns of oculomotor abnormalities. The clinical spectrum of AOA2 might be even broader than previously described in larger series. Oculography might be a useful tool to detect subclinical oculomotor apraxia in this disorder.

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