Ocular motor deficits in oculopharyngeal muscular dystrophy

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    Ocular motor deficits in oculopharyn-

    geal muscular dystrophy

    D. Gautiera, I. Penisson-Besnierb,

    S. Rivaud-Pechouxc, C. Rabautea

    and D. Mileaa,d

    aDepartment of Ophtalmologie, Centre

    Hospitalier Universitaire dAngers;bDepartment of Neurologie, Centre de

    reference des maladies neuromusculaires,

    Centre Hospitalier Universitaire dAngers;cPierre et Marie Curie Universite Paris-6,

    INSERM URMS 975, CNRS 7225, Paris,

    France; and dDepartment of Ophthalmol-

    ogy, Glostrup Hospital, Copenhagen

    University, Denmark

    Correspondence: D. Gautier, Department

    of Ophtalmologie, Centre Hospitalier

    Universitaire dAngers, 4 rue Larrey,49933 Angers Cedex 9, France (tel.:

    +33241353274; fax: +33241354264;

    e-mail: dlgautier@yahoo.fr).

    Keywords: amplitudes of saccades,

    ocular motility, oculopharyngeal muscular

    dystrophy, saccades, speed of saccades

    Received 6 September 2011

    Accepted 12 December 2011


    Oculopharyngeal muscular dystrophy

    (OPMD, MIM #164300) is a rare domi-

    nantly inherited myopathy caused by a

    short GCG-triplet expansion in the

    poly(A) binding protein nuclear 1 gene

    (PABPN1) [1]. Presenting signs, starting in

    late adulthood, are slowly progressive

    ptosis and dysphagia, with subsequent

    possible involvement of other voluntary

    muscles. Extraocular eye movements in

    OPMD are to date poorly described [2].

    The aim of this pilot study was to quantify

    the ocular saccades in patients with


    Subjects and methods

    Eye movements of patients with geneti-

    cally conrmed OPMD were recorded

    using a new dedicated infrared video

    oculography device (Mobile EyeBrain

    Tracker, e(ye)BRAIN, Ivry-sur-Seine,

    France, http://www.eye-brain.com). This

    study, approved by the local ethics com-

    mittee, was conducted in accordance with

    the Declaration of Helsinki.

    Characteristics of 20 horizontal sac-cades (latency, amplitude, gain, and peak

    velocity) of left and right eyes were

    assessed using a horizontal pro-saccade

    (gap) task both in the OPMD group and

    in a matched healthy control group (28

    volunteers, mean age 71.5 11.8 years).

    Because of ptosis, only horizontal

    saccades were analyzed. Between-group

    comparisons were made using the Mann

    Whitney U test, and P values 0.05 >0.05 >0.05 0.00015

    Latency, amplitude value, (Vmax) peak velocity, (Gain) accuracy. There was a signicant

    reduction of Vmax in patients with oculopharyngeal muscular dystrophy.

    e38 2012 The Author(s)

    European Journal of Neurology 2012 EFNS

    European Journal of Neurology 2012, 19: e38 doi:10.1111/j.1468-1331.2011.03657.x