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The Cerebellum

, Volume 18, Issue 2, pp 287–290 | Cite as

Gravity-Independent Upbeat Nystagmus in Syndrome of Anti-GAD Antibodies

  • Daniel Feldman
  • Jorge Otero-Millan
  • Aasef G. ShaikhEmail author
Short Report
  • 138 Downloads

Abstract

An autoimmune disorder of the central nervous system, stiff person syndrome, frequently presents with increased titers of 65KD anti-glutamic acid decarboxylase (anti-GAD) antibodies. The clinical phenomenology of this syndrome includes stiffness, ataxia, vertigo due to horizontal gaze-evoked and downbeat vertical nystagmus, and dysmetria of saccades and reaching movements. Here, we describe a novel phenomenology of syndrome of anti-GAD antibody, non-position-dependent upbeat nystagmus and superimposed horizontal gaze-evoked nystagmus. Lack of gravity dependence of primary position upbeat nystagmus, intense nystagmus on up-gaze, relatively stable gaze on downward orientation, and the exponentially decaying waveform suggests neural integrator dysfunction. The titer of anti-GAD in our patient (30 U/ml) was consistent with a variant called “low-titer anti-GAD syndrome”. In addition of presenting as an unusual manifestation of a rare neurological syndrome, this case presents a neurochemical correlate of upbeat nystagmus in GABA-mediated control system involving horizontal and vertical neural integrators. Furthermore, the variant of “low-titer anti-GAD syndrome” suggests that GABAergic system may be affected at lower level or antibodies, and/or the epitopes of antibody in those with full-blown clinical syndrome, but low titers of anti-GAD may be different.

Keywords

Cerebellum Brainstem Stiff person syndrome Anti-GAD Anti-gliadin 

Notes

Acknowledgements

AS is supported by career development award from the American Academy of Neurology, George C. Cotzias Memorial Fellowship from the American Parkinson’s Disease Association, and Dystonia Medical Research Foundation neural network in dystonia grant.

Funding Information

JO-M is covered by NIH K99 EY027846.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

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ESM 1 (MP4 14,680 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Daniel Feldman
    • 1
  • Jorge Otero-Millan
    • 2
  • Aasef G. Shaikh
    • 1
    Email author
  1. 1.Department of Neurology, Cleveland VA Medical CenterUniversity HospitalsClevelandUSA
  2. 2.Department of NeurologyJohns Hopkins UniversityBaltimoreUSA

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