Researchers characterize an emerging autoimmune disease that is potentially treatable, if recognized.
Progressive encephalomyelitis with rigidity and myoclonus (PERM), or “stiff-person–plus disease,” is an uncommon disorder associated with antibodies against the glycine receptor. This large case series details 52 patients who were prospectively identified based on glycine receptor positivity from 41 sera and 11 serum/cerebrospinal fluid (CSF) pairs from 779 total samples.
Clinical characteristics were available for 45 patients. PERM occurred at a wide age range (1–75 years) and had no gender preference in adults. Symptoms presented acutely, subacutely, or insidiously. Nine patients had one or more prior or newly associated tumors: 5 thymoma, 3 lymphoma, 3 breast cancer, and 1 monoclonal immunoglobulin M gammopathy. In 29% of patients, other …
Reviewing Author
DisclosuresConsultant/Advisory BoardAlexion Pharmaceuticals; Amgen; Astoria; Biogen; Bristol Myers Squibb; Celltrion; Genentech; Hoffmann-La Roche; Genzyme; EMD Serono; Immpact-Bio; Immunic Therapeutics; Kyverna; Lundbeck; Novartis; Sandoz; TG Therapeutics
Grant/Research SupportNational Institutes of Health; National Multiple Sclerosis Society; U.S. Department of Defense
Leadership Positions in Professional SocietiesConsortium of Multiple Sclerosis Centers (Treasurer)
DisclosuresConsultant/Advisory BoardAlexion Pharmaceuticals; Amgen; Astoria; Biogen; Bristol Myers Squibb; Celltrion; Genentech; Hoffmann-La Roche; Genzyme; EMD Serono; Immpact-Bio; Immunic Therapeutics; Kyverna; Lundbeck; Novartis; Sandoz; TG Therapeutics
Grant/Research SupportNational Institutes of Health; National Multiple Sclerosis Society; U.S. Department of Defense
Leadership Positions in Professional SocietiesConsortium of Multiple Sclerosis Centers (Treasurer)