Teaching Video NeuroImages: Anti-IgLON5 Disease

Abstract

A 74-year-old woman presented with a 5-year history of progressive gait instability with recurrent falls, dysphonia, dysphagia, and sleep problems, which included insomnia, breathing difficulties, and complex vocalizations during sleep (talking, singing, laughing). Examination showed bilateral ptosis, upward gaze palsy, hoarseness, dysprosody, and gait instability (video 1). No parkinsonism, chorea, or dementia was detected.Brain MRI and PET as well as CSF measures were unremarkable. Video-polysomnography revealed a disorganized sleep architecture but not parasomnia. Anti-IgLON5 antibodies were positive in CSF and serum by cell-based assay of HEK cells transfected with IgLON5 and immunohistochemistry on rat brain. Human leukocyte antigen genotyping detected HLA-DQB1*05:01.Immunotherapy with IV methylprednisolone 1 g/d for 5 days and immunoglobulins resulted in improvement of gait and speech over a month (video 1). A second course of immunoglobulins provided clinical stability.Anti-IgLON5 disease represents a paradigm of autoimmune neurodegeneration with core features of a specific sleep disorder, bulbar symptoms, and gait abnormalities. 1 Its recognition is important because some cases respond to immunotherapy. 2 Study FundingNo targeted funding reported.

Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease

“…We retrospectively reviewed the clinical information of all patients with IgLON5 antibodies consecutively identified at the Neuroimmunology Laboratory of the Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Hospital Clinic (Barcelona, Spain), from January 2014 to August 2020. The sleep dysfunction and general clinical features of 31 patients have been reported, 1,2,5,10,11,14 - 22 but the abnormal movements were previously described in detail in only 3 of them. 11,16,22…”

“…We retrospectively reviewed the clinical information of all patients with IgLON5 antibodies consecutively identified at the Neuroimmunology Laboratory of the Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Hospital Clinic (Barcelona, Spain), from January 2014 to August 2020. The sleep dysfunction and general clinical features of 31 patients have been reported, 1,2,5,10,11,[14][15][16][17][18][19][20][21][22] but the abnormal movements were previously described in detail in only 3 of them. 11,16,22 Initial Clinical Evaluation Demographic and clinical data of the patients were provided by the referring physicians through a structured written questionnaire obtained by the time of IgLON5 antibody detection.…”