Anti-IgLON5 disease is a disorder associated with autoantibodies.
The autoantibodies exist to Anti-IgLON5 , a neural cell adhesion molecule of unknown function.
The disorder affects men and women equally.
The disease usually develops at age 50 to 60 years of age.
The disorder is characterized by a distinctive sleep phenotype and a wide range of neurologic symptoms.
Sleep phenotypes include poorly consolidated sleep, NREM parasomnia with undifferentiated or probably differentiated NREM sleep early in the sleep episode with vocalizations and movements, sleep disordered breathing, REM sleep behavior disorder, and stridor.
Patients may experience daytime sleepiness.
Other manifestations include dysarthria, dysphagia, gait instability, chorea, cognitive changes, eye movement abnormalities, fasciculations, and myoclonus.
Phenotypes include predominantly sleep related disorders, bulbar syndrome, innervation changes in the arms and leg muscles, progressive supranuclear palsy like syndrome, cognitive syndrome, hyperexcitability with cramps, myoclonus, and fasciculations.
The rarity of the entity, and its slow progression over months or years contribute to a diagnostic delay in time, with the median time from symptom onset to diagnosis of 2.5 years.
Little is known about treatment, but the reported response rate immunotherapy ranges from 10 to 70%.
Little is known about effective treatment, but response rate immunotherapy ranges from 10 to 70% and includes glucocorticoids immunoglobulins. plasma exchange, rituximab, cyclophosphamide, azathioprine, mycophenolate mofetil or a combination.
Combination therapy seems to be more effective.
Diagnosis is based on the findings of typical sleep symptoms, a combination of additional neurologic symptoms and the presence of IgLON5 auto antibodies.