Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review

• Published in: Frontiers in immunology Vol. 15; p. 1387591
• Main Authors: Wu, Xiaoke, Zhang, Haifeng, Shi, Mengmeng, Fang, Shaokuan
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 17.06.2024
• Subjects: Adult; antiglycine receptor antibody; Autoantibodies - blood; Autoantibodies - immunology; autoimmune; Encephalomyelitis - diagnosis; Encephalomyelitis - immunology; epilepsy; Humans; Immunology; Male; Muscle Rigidity - diagnosis; Muscle Rigidity - etiology; Muscle Rigidity - immunology; Myoclonus - diagnosis; Myoclonus - immunology; progressive encephalomyelitis with rigidity and myoclonus; Receptors, Glycine - immunology; stiff-person syndrome; Stiff-Person Syndrome - diagnosis; Stiff-Person Syndrome - immunology; Stiff-Person Syndrome - therapy; Young Adult; epilepsy; progressive encephalomyelitis with rigidity and myoclonus; autoimmune; antiglycine receptor antibody; stiff-person syndrome
• ISSN: 1664-3224; 1664-3224
• DOI: 10.3389/fimmu.2024.1387591

Antiglycine receptor (anti-GlyR) antibody mediates multiple immune-related diseases. This study aimed to summarize the clinical features to enhance our understanding of anti-GlyR antibody-related disease. By collecting clinical information from admitted patients positive for glycine receptor (GlyR) antibody, the clinical characteristics of a new patient positive for GlyR antibody were reported in this study. To obtain additional information regarding anti-GlyR antibody-linked illness, clinical data and findings on both newly reported instances in this study and previously published cases were merged and analyzed. A new case of anti-GlyR antibody-related progressive encephalomyelitis with rigidity and myoclonus (PERM) was identified in this study. A 20-year-old man with only positive cerebrospinal fluid anti-GlyR antibody had a good prognosis with first-line immunotherapy. The literature review indicated that the common clinical manifestations of anti-GlyR antibody-related disease included PERM or stiff-person syndrome (SPS) (n = 179, 50.1%), epileptic seizure (n = 94, 26.3%), and other neurological disorders (n = 84, 24.5%). Other neurological issues included demyelination, inflammation, cerebellar ataxia and movement disorders, encephalitis, acute psychosis, cognitive impairment or dementia, celiac disease, Parkinson's disease, neuropathic pain and allodynia, steroid-responsive deafness, hemiballism/tics, laryngeal dystonia, and generalized weakness included respiratory muscles. The group of PERM/SPS exhibited a better response to immunotherapy than others. The findings suggest the presence of multiple clinical phenotypes in anti-GlyR antibody-related disease. Common clinical phenotypes include PERM, SPS, epileptic seizure, and paraneoplastic disease. Patients with RERM/SPS respond well to immunotherapy.