Antonio Farina, Macarena Villagrán‐García, Amna Abichou-Klich, Marie Bénaiteau, E Bernard, Françoise Bouhour, Virginie Desestret, Bastien Joubert, Géraldine Picard, Anne‐Laurie Pinto, Lea Pons, Krzysztof Smolik, Stéphane Thobois, Sophie Trouillet‐Assant, Jérôme Honnorat
BACKGROUND AND OBJECTIVES: Anti-IgLON5 disease manifests by various neurologic symptoms, the severity of which can be evaluated using the anti-IgLON5 composite score (ICS). This study assessed the correlation of neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) with the ICS and investigated these biomarkers as predictors of long-term clinical severity and mortality in anti-IgLON5 disease. METHODS: Patients diagnosed with anti-IgLON5 disease at a national reference center (2016-2024) with available serum and CSF samples were included. NfL and GFAP concentrations were measured in these samples using Simoa assay Neurology 2-Plex B Kit. The severity of symptoms was classified according to the ICS, which was retrospectively evaluated at diagnosis, at last clinical evaluation, and at any other timepoint when samples were collected. RESULTS: = 0.040). DISCUSSION: In anti-IgLON5 disease, serum NfL and GFAP are elevated and correlate with the clinical severity, especially of bulbar symptoms. In clinical practice, serum NfL could be useful for disease monitoring and to predict the risk of death.