Lídia Sabater, Mar Guasp, Raquel Ruiz García, Laura Naranjo Rondán, L. Querol, L. Aguilar, Paula Llarch, Mircea Balasa, Albert Lladó, Cèlia Painous, Yaroslau Compta, Ana Beatriz Serafim, Angelica Montini, Alex Iranzo, Joan Santamaría Cano, JOSEP DALMAU, Francesc Graus, Carles Gaig, for the Anti-IgLON5 Disease Study Group, Gian Maria Asioli, Luís Bataller, Morten Blaabjerg, Álvaro Beltrán‐Corbellini, Koldo Berganzo, Norbert Brüggemann, Marcus Erdler, Elena Erro, Tarsis Farias, Juan Carlos García‐Moncó, Christian Geis, Caroline Giordana, Anna Heidbreder, Alejandro Herrero-San Martín, Romana Hofberger, Birgit Högl, Lúcio Huebra, Markus Hutterer, Jesus Jiménez, Katya Kotschet, Jan Lewerenz, Herburg Liendl, Lydia López-Manzanares, Stefan Macher, Antonio Martín‐Bastida, Ángela Milán-Tomás, Teresa Montojo, Chen Fei Ng, Pasquale Nigro, Maja Patalong‐Ogiewa, Jesus Pérez-Pérez, Giuseppe Plazzi, Federica Provini, Inmaculada Puertas, Blanca Serrano, S. Quintas, Thomas Seifert-Held, Caspar Seitz, Mateus Simabukuro, Raphael Ribeiro Spera, Ambra Stefani, Nicola Tambasco, Nieves Téllez, Javier Villacieros- Alvarez, Barbara Willekens
BACKGROUND AND OBJECTIVES: Anti-IgLON5 disease is characterized by substantial clinical heterogeneity and variable outcomes. We investigated the associations of clinical features as well as serum neurofilament light chain (NfL), phosphorylated tau (p-tau), IgG4 levels, and the HLA-DRB110:01∼DQB105:01 haplotype with disease presentation and outcome. METHODS: This is a retrospective observational study of patients with anti-IgLON5 disease diagnosed in our laboratory with adequate clinical information and follow-up. Neurologic disability was evaluated with the modified Rankin Scale (mRS) and the anti-IgLON5 composite score (ICS). Serum NfL and p-tau181 levels were measured using a commercial single-molecule array (Simoa) assay and IgG4 levels by flow cytometry. Associations between biomarkers and baseline clinical features were assessed using Spearman rank correlation and linear regression analyses. Prognostic variables were evaluated using binary logistic and Cox proportional hazards regression models. RESULTS: = 0.02). DISCUSSION: Serum NfL levels correlate with neurologic disability, whereas the bulbar phenotype was the main risk factor of mortality, indicating that these patients should be closely monitored and considered for early interventions (i.e., tracheostomy) that may modify an otherwise poor prognosis.