4.6 Article

Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders

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LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/NXI.0000000000000438

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  1. Mayo Clinic Center for Individualized Medicine

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Background Glycine receptor alpha-1 subunit (GlyR alpha 1)-immunoglobulin G (IgG) is diagnostic of stiff-person syndrome (SPS) spectrum but has been reported detectable in other neurologic diseases for which significance is less certain. Methods To assess GlyR alpha 1-IgGs as biomarkers of SPS spectrum among patients and controls, specimens were tested using cell-based assays (binding [4 degrees C] and modulating [antigen endocytosing, 37 degrees C]). Medical records of seropositive patients were reviewed. Results GlyR alpha 1-IgG (binding antibody) was detected in 21 of 247 patients with suspected SPS spectrum (8.5%) and in 8 of 190 healthy subject sera (4%) but not CSF. Among 21 seropositive patients, 20 had confirmed SPS spectrum clinically, but 1 was later determined to have a functional neurologic disorder. Sera from 9 patients with SPS spectrum, but not 7 controls, nor the functional patient, caused GlyR alpha 1 modulation (100% specificity). SPS spectrum phenotypes included progressive encephalomyelitis with rigidity and myoclonus (PERM) (8), classic SPS (5), stiff limb (5), stiff trunk (1), and isolated exaggerated startle (hyperekplexia, 1). Neuropsychiatric symptoms present in 12 patients (60%) were anxiety (11), depression (6), and delirium (3). Anxiety was particularly severe in 3 patients with PERM. Objective improvements in SPS neurologic symptoms were recorded in 16 of 18 patients who received first-line immunotherapy (89%, 9/10 treated with corticosteroids, 8/10 treated with IVIg, 3/4 treated with plasma exchange, and 1 treated with rituximab). Treatment-sparing maintenance strategies were successful in 4 of 7 patients (rituximab [2/3], azathioprine [1/1], and mycophenolate [1/3]). Conclusions GlyR alpha 1-modulating antibody improves diagnostic specificity for immunologically treatable SPS spectrum disorders. Classification of evidence This study provides Class IV evidence that GlyR alpha 1-modulating antibody accurately identifies patients with treatable SPS spectrum disorders.

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