Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders
| Autor: | Sofia Akrivou, Harry Alexopoulos, Marinos C. Dalakas |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
Cerebellum Encephalomyelitis Green Fluorescent Proteins Enzyme-Linked Immunosorbent Assay Stiff-Person Syndrome Transfection Severity of Illness Index Receptors Glycine medicine Humans Glycine receptor Autoantibodies business.industry Glutamate Decarboxylase Autoantibody equipment and supplies medicine.disease Spinal cord medicine.anatomical_structure HEK293 Cells Immunology Female Neurology (clinical) Brainstem medicine.symptom business Myoclonus Stiff person syndrome |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1526-632X |
| Popis: | Stiff-person syndrome (SPS) is characterized by stiffness in trunk and limb muscles, phobic anxiety, and sudden spasms. A disturbance in inhibitory GABAergic pathways, presumably by autoantibodies against GAD (the main GABA-synthesizing enzyme), is considered fundamental for SPS pathogenesis.1 As the precise role of anti-GAD antibodies in SPS remains unclear,2,3 several other candidate disease-specific autoantibodies associated with inhibitory pathways have been explored3,4 or are actively pursued. Recently, McKeon et al.5 described anti-glycine-α1 receptor (GlyR) antibodies in a subset of patients with SPS. Glycine is a neurotransmitter in spinal inhibitory interneurons and GlyR are primarily expressed in the spinal cord, brainstem, and cerebellum. Anti-GlyR antibodies have been associated with progressive encephalomyelitis with rigidity and myoclonus (PERM), a syndrome resembling SPS.6 Our aims were to search for GlyR antibodies in a large number of patients with well-characterized SPS and other CNS autoimmune controls and other GAD-positive disorders; and to correlate anti-GlyR titers with clinical symptomatology using quantitative scales of stiffness and spasms.7 The authors thank Dr. Goran Rakocevic and Beverly McElroy, RN, for helping with the care of patients studied at the NIH under Dr. Dalakas's protocols. |
| Databáze: | OpenAIRE |
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