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  • Updated 02.05.2024
  • Released 09.16.2019
  • Expires For CME 02.05.2027

Anti-IgLON5 disease



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 bulbar dysfunction (dysphagia, dysarthria, central hypoventilation), gait instability, and a variety of movement disorders (mainly chorea and craniofacial dyskinesias) and other neurologic symptoms (eg, cognitive impairment, autonomic disfunction, oculomotor abnormalities, and neuromuscular manifestations). 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 current knowledge puts 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 major 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 eight patients presenting a neurologic syndrome with a prominent sleep disorder and antibodies directed to a neuronal surface protein named IgLON5 (24). Neuropathology in two patients showed neuronal loss and deposits of hyperphosphorylated tau protein in the brainstem tegmentum and hypothalamus. Since then, more than 180 cases have been reported (11; 16). The spectrum of neurologic symptoms and presentations is expanding (10), and cases without an underlying tauopathy have been reported (07; 09). The underlying pathophysiology of anti-IgLON5 disease is still unclear, but the current evidence supports a primary autoimmune pathogenesis that could lead to neurodegeneration with neuronal loss and associated tau deposits.

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