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Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.
- Source :
-
JAMA neurology [JAMA Neurol] 2013 Jan; Vol. 70 (1), pp. 44-50. - Publication Year :
- 2013
-
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.<br />Design: Retrospective, case-control study.<br />Settings: Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain.<br />Patients: Eighty-one patients with stiff-man syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects.<br />Intervention: Glycine receptor α1-transfected cells to test serum or cerebrospinal fluid from cases and control subjects.<br />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.<br />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 steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid.<br />Conclusions: Glycine receptor α1-IgG aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.
- Subjects :
- Adolescent
Adult
Age of Onset
Aged
Autoantibodies genetics
Brain Stem immunology
Brain Stem metabolism
Brain Stem pathology
Case-Control Studies
Child, Preschool
Female
HEK293 Cells
Humans
Male
Middle Aged
Protein Subunits genetics
Protein Subunits immunology
Receptors, Glycine genetics
Receptors, Glycine immunology
Retrospective Studies
Stiff-Person Syndrome genetics
Autoantibodies biosynthesis
Phenotype
Receptors, Glycine blood
Stiff-Person Syndrome immunology
Subjects
Details
- Language :
- English
- ISSN :
- 2168-6157
- Volume :
- 70
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- JAMA neurology
- Publication Type :
- Academic Journal
- Accession number :
- 23090334
- Full Text :
- https://doi.org/10.1001/jamaneurol.2013.574