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  • Updated 09.12.2021
  • Released 09.16.2019
  • Expires For CME 09.12.2024

Anti-IgLON5 disease

Introduction

Overview

Anti-IgLON5 disease is a neurologic disorder associated with antibodies in serum and CSF against IgLON5, a neuronal surface protein of unknown function. The disease is characterized by a distinctive sleep disorder associated with symptoms of brainstem dysfunction, gait instability, and a variety of movement disorders (mainly chorea and craniofacial dyskinesias) and other neurologic symptoms (mainly cognitive impairment). Anti-IgLON5 disease is associated with specific HLA haplotypes, but neuropathological examinations show in some patients a neuronal tauopathy predominantly involving the tegmentum of the brainstem and hypothalamus. At present, the exact pathogenesis is unclear, but these findings put anti-IgLON5 disease at the confluence of autoimmune and neurodegenerative mechanisms.

Key points

Patients with anti-IgLON5 disease usually present a distinctive sleep disorder characterized by a NREM and REM parasomnia associated with stridor and obstructive sleep apnea.

Neurologic symptoms beyond sleep are often the presenting symptom leading to medical consultation and may overshadow the sleep disorder.

In addition to sleep problems, symptoms of bulbar dysfunction, gait abnormalities, and movement disorders including chorea and craniofacial dyskinesias are frequent and prominent at disease presentation.

Five clinical phenotypes have been identified based on the predominant manifestations: (1) the sleep disorder, (2) a bulbar syndrome, (3) movement disorders, (4) cognitive impairment, and (5) neuromuscular manifestations.

Historical note and terminology

Anti-IgLON5 disease was described in 2014 in 8 patients presenting a neurologic syndrome with a prominent sleep disorder and antibodies directed to a neuronal surface protein named IgLON5 (22). Neuropathology in 2 patients showed neuronal loss and deposits of hyperphosphorylated tau protein in the brainstem tegmentum and hypothalamus. Since then, more than 120 cases have been reported, and the spectrum of neurologic symptoms and presentations is expanding (06). The underlying pathophysiology is still unclear, but the current evidence places the disease in interplay between autoimmunity and neurodegeneration.

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