Anti-IgLON5 disease


Anti-IgLON5 disease is a neurodegenerative autoimmune disease. It is marked by parasomnias and chorea - an involuntary movement disorder.
IgLON5 refers to a cell surface protein involved in promoting connections among nerve cells.
Prevalence of the HLA-DRB1*10:01 allele was greatly increased in people with anti-IgLON5 disease.

Immunology and pathophysiology

The IgLON proteins are a family of five cell-adhesion molecules IgLON 1, 2, 3, 4 & 5, which assist in neuronal growth and connections among nerve cells. and help in brain evolution and maturation to maintain integrity of the blood brain barrier.
Abnormal pTau deposits seen in several brains, brain stems and upper cervical cords shown by neuro-immuno-histochemistry studies of brain tissue from these regions without inflammatory cells differentiate this entity from other autoimmune encephalitis.

Treatment and outcome

Anti-IgLON5 disease is mainly treated with immunosuppressants, mostly cycles of IV corticosteroids in combination with IV immunoglobulins and/or TPE. Alternative successfully used, second-line treatments are Rituximab and Cyclophosphamide, Azathioprine and Mycophenolat Mofetil.
Sudden death is the most common outcome in nearly 34% of patients, irrespective of partial response to therapy. While complications from aspiration were the other common cause of death.
Symptomatic treatment with CPAP in patients with OSA helps improve respiratory symptoms, while parasomnias and movement disorders did not respond when antiepileptic, dopaminergic, and anti-hyperkinetic drugs were administered.