title: Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome.
abstract: Opsoclonus myoclonus ataxia syndrome (OMAS) is an autoimmune disorder characterized by rapid, random, conjugate eye movements (opsoclonus), myoclonus, and ataxia. Given these symptoms, autoantibodies targeting the cerebellum or brainstem could mediate the disease or be markers of autoimmunity. In a subset of patients with OMAS, we identified such autoantibodies, which bind to non-synaptic puncta on the surface of live cultured cerebellar and brainstem neuronal dendrites. These findings implicate autoimmunity to a neuronal surface antigen in the pathophysiology of OMAS. Identification of the targeted antigen(s) could elucidate the mechanisms underlying OMAS and provide a biomarker for diagnosis and response to therapy.
authors: Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
authors: Jessica A
authors: JA
authors: Panzer
authors: College of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, United States.
authors: Ronan
authors: R
authors: Anand
authors: Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States; Institució Catalana de Recerca i Estudis Avançats (ICREA), IDIBAPS, Hospital Clínic, Barcelona, Spain.
authors: Josep
authors: J
authors: Dalmau
authors: Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address: lynchd@mail.med.upenn.edu.
authors: David R
authors: DR
authors: Lynch
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D000954:Antigens, Surface / Q000276:immunology*; D001323:Autoantibodies / Q000097:blood / Q000134:cerebrospinal fluid; D001933:Brain Stem / Q000166:cytology; D002478:Cells, Cultured; D002531:Cerebellum / Q000166:cytology; D002648:Child; D002675:Child, Preschool; D003712:Dendrites / Q000187:drug effects / Q000378:metabolism*; D000076122:Disks Large Homolog 4 Protein; D051959:ELAV Proteins / Q000378:metabolism; D004622:Embryo, Mammalian; D051528:Guanylate Kinases / Q000378:metabolism; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000378:metabolism; D051379:Mice; D008875:Middle Aged; D009474:Neurons / Q000166:cytology* / Q000187:drug effects; D053578:Opsoclonus-Myoclonus Syndrome / Q000097:blood / Q000134:cerebrospinal fluid / Q000276:immunology*; D051381:Rats; D055815:Young Adult
chemical_list: D000954:Antigens, Surface; D001323:Autoantibodies; D000076122:Disks Large Homolog 4 Protein; C501447:Dlg4 protein, mouse; D051959:ELAV Proteins; D008565:Membrane Proteins; D051528:Guanylate Kinases
keywords: Autoantibodies; Brainstem neurons; Cerebellar neurons; Opsoclonus myoclonus ataxia syndrome; Paraneoplastic neurological syndrome