JAMA neurology · 2013
Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.
Клинический случайСравнительное исследованиеСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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McKeon Andrew, Martinez-Hernandez Eugenia, Lancaster Eric, Matsumoto Joseph Y, Harvey Robert J, McEvoy Kathleen M, Pittock Sean J, Lennon Vanda A, Dalmau Josep
Аннотация
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 steroid-responsive 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.
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 steroid-responsive 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.