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Anti-IgLON5 Disease

Rare neurological disorder bridging autoimmunity and tauopathy, characterized by IgLON5 antibodies, sleep disorders, bulbar symptoms, gait instability, and brainstem-dominant tau pathology with variable response to immunotherapy.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Anti-IgLON5 Disease?

Anti-IgLON5 disease was identified by Sabater and colleagues in 2014, characterized by serum and CSF IgG4 antibodies against IgLON5, a member of the IgLON immunoglobulin superfamily of neuronal cell adhesion molecules.

The disease bridges autoimmune and neurodegenerative paradigms: postmortem studies reveal three-repeat and four-repeat tau accumulation in hypothalamic and brainstem tegmentum neurons, distinct from PSP and AD; the antibody is thought to drive tau aggregation through internalization of cell-surface IgLON5.

Five clinical phenotypes are recognized: sleep disorder with abnormal sleep behaviors and sleep apnea, bulbar dysfunction, gait abnormality with progressive supranuclear palsy-like features, cognitive decline with brainstem hyperkinesia, and isolated chorea; sleep disorder is the most common initial manifestation.

Symptoms

Non-REM and REM parasomnias with abnormal vocalizations, complex motor behaviors during sleep
Severe sleep apnea (often central or mixed), stridor, and respiratory distress during sleep
Bulbar dysfunction with dysphagia, dysarthria, sialorrhea, recurrent aspiration
Gait disturbance, ataxia, postural instability, falls, parkinsonism with vertical gaze palsy resembling PSP
Movement disorders including chorea, myoclonus, dystonia, periodic limb movements
Autonomic dysfunction (orthostasis, dysautonomia), cognitive decline, sudden cardiopulmonary death

Risk Factors

Specific HLA-DRB1*10:01 and HLA-DQB1*05:01 alleles strongly associated with anti-IgLON5 disease
Median age of onset 60–65 years, slight female predominance
No clear environmental triggers identified
Family history rare; sporadic in most cases
Coexistence with other autoimmune conditions reported
Earlier recognition and treatment may improve prognosis given progressive tauopathy in untreated

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Severe parasomnia with sleep apnea, stridor, or unusual sleep behaviors in middle-aged adult — neurology and sleep medicine evaluation with polysomnography
  • Bulbar symptoms (dysphagia, dysarthria) with abnormal sleep behavior — autoimmune encephalitis workup including IgLON5 antibodies
  • PSP-like presentation with sleep disturbance — atypical parkinsonism evaluation including antibody testing
  • New cardiopulmonary instability or sudden cardiac event in known patient — emergency evaluation and ICU monitoring
  • Suspected anti-IgLON5 disease — referral to specialized autoimmune neurology center

Treatment Methods

01
Symptomatic respiratory support: positive airway pressure (CPAP, BiPAP) for sleep apnea, tracheostomy in severe stridor or recurrent respiratory failure
02
Immunotherapy: high-dose IV methylprednisolone, IVIG, plasma exchange initially; many patients show some clinical improvement particularly in sleep features
03
Maintenance immunotherapy: rituximab, mycophenolate mofetil, or azathioprine; benefit often partial due to underlying tauopathy contribution
04
Symptomatic management: levodopa for parkinsonism (often poor response), tetrabenazine for chorea, anticholinergics for sialorrhea, gabapentin or clonazepam for parasomnia
05
Cardiopulmonary monitoring with ICU readiness given risk of sudden death; speech therapy and gastrostomy for severe dysphagia; multidisciplinary follow-up neurology, sleep medicine, pulmonology, palliative care

Which Department to Visit?

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.