Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

摘要: 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 myoclonus phenotype recognized to date, ascertain disease specificity. Design Retrospective, case-control study. Settings Mayo Clinic, Rochester, Minnesota, University Barcelona, Spain. Patients Eighty-one patients stiff-man syndrome phenotype, 80 neurologic control subjects, 20 healthy subjects. Intervention Glycine α1–transfected cells test serum or cerebrospinal fluid from cases Main Outcome Measures Frequency GlyRα1-IgG positivity among Comparison seropositive seronegative cases. Results Seropositive (12% cases) included 9 (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65–IgG positive) 1 myoclonus. Immunotherapy responses noted more frequently GlyRα1-IgG–positive (6 7 improved) (7 25 improved; P = .02). The single patient had steroid-responsive vision loss optic atrophy inflammatory fluid. Conclusions α1–IgG aids identification autoimmune brainstem/spinal cord may extend glycinergic visual system.