Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

McKeon Andrew McKeon, Eugenia Martinez-Hernandez, Eric Lancaster, Joseph Y. Matsumoto, Robert J. Harvey, M. McEvoy Kathleen, Sean J Pittock, Vanda A Lennon, Josep Dalmau

Research output: Contribution to journalArticle

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Abstract

Objectives: To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. Design: Retrospective, case-control study. Settings: Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain. Patients: Eighty-one patients with stiff-man syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects. Intervention: Glycine receptor α1-transfected cells to test serum or cerebrospinal fluid from cases and control subjects. Main Outcome Measures: Frequency of GlyRα1- IgG positivity among stiff-man syndrome phenotype cases and control subjects. Comparison of GlyRα1-IgG seropositive and seronegative cases. Results: Seropositive cases (12% of cases) included 9 with stiff-man syndrome (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65-IgG positive) and 1 with progressive encephalomyelitis with rigidity and myoclonus. Immunotherapy responses were noted more frequently in GlyRα1-IgG-positive cases (6 of 7 improved) than in seronegative cases (7 of 25 improved; P=.02). The single seropositive control patient had steroidresponsive vision loss and optic atrophy with inflammatory cerebrospinal fluid. Conclusions: Glycine receptor α1-IgG aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.

Original languageEnglish (US)
Pages (from-to)44-50
Number of pages7
JournalArchives of Neurology
Volume70
Issue number1
DOIs
StatePublished - Jan 2013

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Stiff-Person Syndrome
Glycine Receptors
Immunoglobulin G
Phenotype
Myoclonus
Brain Stem
Cerebrospinal Fluid
Optic Atrophy
Glutamate Decarboxylase
Spinal Cord Diseases
Spain
Autoantibodies
Immunotherapy
Nervous System
Syndrome
Case-Control Studies
Healthy Volunteers
Outcome Assessment (Health Care)
Serum

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

Cite this

Andrew McKeon, M., Martinez-Hernandez, E., Lancaster, E., Matsumoto, J. Y., Harvey, R. J., Kathleen, M. M., ... Dalmau, J. (2013). Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. Archives of Neurology, 70(1), 44-50. https://doi.org/10.1001/jamaneurol.2013.574

Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. / Andrew McKeon, McKeon; Martinez-Hernandez, Eugenia; Lancaster, Eric; Matsumoto, Joseph Y.; Harvey, Robert J.; Kathleen, M. McEvoy; Pittock, Sean J; Lennon, Vanda A; Dalmau, Josep.

In: Archives of Neurology, Vol. 70, No. 1, 01.2013, p. 44-50.

Research output: Contribution to journalArticle

Andrew McKeon, M, Martinez-Hernandez, E, Lancaster, E, Matsumoto, JY, Harvey, RJ, Kathleen, MM, Pittock, SJ, Lennon, VA & Dalmau, J 2013, 'Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype', Archives of Neurology, vol. 70, no. 1, pp. 44-50. https://doi.org/10.1001/jamaneurol.2013.574
Andrew McKeon M, Martinez-Hernandez E, Lancaster E, Matsumoto JY, Harvey RJ, Kathleen MM et al. Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. Archives of Neurology. 2013 Jan;70(1):44-50. https://doi.org/10.1001/jamaneurol.2013.574
Andrew McKeon, McKeon ; Martinez-Hernandez, Eugenia ; Lancaster, Eric ; Matsumoto, Joseph Y. ; Harvey, Robert J. ; Kathleen, M. McEvoy ; Pittock, Sean J ; Lennon, Vanda A ; Dalmau, Josep. / Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. In: Archives of Neurology. 2013 ; Vol. 70, No. 1. pp. 44-50.
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