Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

Andrew McKeon; E Martinez-Hernandez; E Lancaster; J Y Matsumoto; Robert J Harvey; Kathleen M McEvoy; S J Pittock; V A Lennon; J Dalmau

doi:10.1001/jamaneurol.2013.574

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Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

Journal article

Peer reviewed

Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

Andrew McKeon, E Martinez-Hernandez, E Lancaster, J Y Matsumoto, Robert J Harvey, Kathleen M McEvoy, S J Pittock, V A Lennon and J Dalmau

Archives of Neurology, Vol.70(1), pp.44-50

2013

DOI: https://doi.org/10.1001/jamaneurol.2013.574

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Abstract

autoantibody

azathioprine

diazepam

glutamate decarboxylase 65

glutamate decarboxylase 65 antibody

glycine receptor

glycine receptor alpha1

immunoglobulin

immunoglobulin G antibody

meprednisone

prednisone

unclassified drug

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. © 2013 American Medical Association.

Details

Title: Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype
Authors: Andrew McKeon (Author) - Mayo Clinic, United States
E Martinez-Hernandez (Author) - Universitat Autonoma de Barcelona, Spain
E Lancaster (Author) - Mayo Clinic, United States
J Y Matsumoto (Author) - Mayo Clinic, United States
Robert J Harvey (Author) - University College London, United Kingdom
Kathleen M McEvoy (Author) - Mayo Clinic, United States
S J Pittock (Author) - Mayo Clinic, United States
V A Lennon (Author) - Mayo Clinic, United States
J Dalmau (Author) - University of Barcelona, Spain
Publication details: Archives of Neurology, Vol.70(1), pp.44-50
Publisher: American Medical Association
Date published: 2013
DOI: 10.1001/jamaneurol.2013.574
ISSN: 0003-9942
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99450453102621
Output Type: Journal article

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Web Of Science research areas: Clinical Neurology

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