A 39-year-old woman presented with apathy, catatonia, and continuous large-amplitude oscillatory head movements (head titubation) evolving over 1 month (video, links.lww.com/WNL/A353). Severe ataxia developed weeks later. Brain MRI, EEG, and serologies were normal. Cell- and tissue-based assays were positive for anti–metabotropic glutamate receptor 1 (mGluR1) antibodies (serum 1:12,800, CSF 1:512; figure). Head titubation, a slow-frequency cerebellar outflow tremor of the head associated with axial hypotonia, may appear in cerebellar abnormalities (Joubert syndrome, Dandy-Walker syndrome) or disorders affecting the anterior lobe of the cerebellum.1 Subacute head titubation should raise suspicion for an mGluR1-associated autoimmune cerebellitis, especially if associated with psychiatric changes.2
Indirect immunohistochemistry on rat brain with patient's CSF shows a neuropil staining pattern in the dentate gyrus and CA3 sector of the hippocampus (A) and molecular layer of the cerebellum (B). Antibodies of the patient are identified on HEK293T cells transfected with mGluR1-EGFP (C; red: CSF of the patient, green: mGluR1-EGFP, blue: Dapi) (A, B: ×40; C: ×400).
Author contributions
J.L. Pedroso: case report project conception, organization, execution; writing of the first draft, review and critique. L.A. Dutra: case report project conception, organization, execution; writing of the first draft, review and critique. A.J. Espay: writing of the first draft, review and critique. R. Hoftberger: case report project execution; writing of the first draft, review and critique. O.G. Barsottini: writing of the first draft, review and critique.
Study funding
No targeted funding reported.
Disclosure
J. Pedroso and L. Dutra report no disclosures relevant to the manuscript. A. Espay has received grant support from the NIH, Great Lakes Neurotechnologies, and the Michael J. Fox Foundation; personal compensation as a consultant/scientific advisory board member for AbbVie, TEVA, Impax, Acadia, Acorda, Cynapsus/Sunovion, Lundbeck, and USWorldMeds; publishing royalties from Lippincott Williams & Wilkins, Cambridge University Press, and Springer; and honoraria from AbbVie, UCB, USWorldMeds, Lundbeck, Acadia, the American Academy of Neurology, and the Movement Disorders Society. R. Hoftberger received grant support from the Jubilaeumsfonds der Oesterreichischen Nationalbank, project 16919. O. Barsottini reports no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
- © 2018 American Academy of Neurology
References
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