Autoimmune Neurobeachin Cerebellar Ataxia

Le résumé fourni par la source

BACKGROUND: There are more than 30 immunoglobulin G (IgG) autoantibody biomarkers of autoimmune cerebellar ataxia reported. OBJECTIVE: To describe a novel IgG biomarker targeting neurobeachin, a scaffolding protein integral to synapse formation and function. METHODS: Clinical and laboratory-based assessment was used for a novel diagnostic biomarker of autoimmune ataxia. RESULTS: A 46-year-old woman had ataxia onset followed by bilateral knee pain, attributable to rheumatoid arthritis. She was negative for standard neural antibodies. Her ataxia stabilized and tremor initially improved after corticosteroid treatment, but she progressed to wheelchair-dependence (on methotrexate and then rituximab) over 4 years, in keeping with the trajectory encountered by many with autoimmune ataxia. In contrast, her inflammatory arthritis remitted with immunotherapy. Neurobeachin-IgG was unmasked in serum and cerebrospinal fluid using protein arrays and confirmed using neurobeachin-specific confocal immunofluorescence and Western blot. CONCLUSIONS: Neurobeachin-IgG is a new neural antibody biomarker of cerebellar ataxia among a growing antibody repertoire, collectively common but often individually rare. © 2024 International Parkinson and Movement Disorder Society.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.