This laboratory assay detects IgG autoantibodies against IgLON5 (Immunoglobulin-like domain–containing protein family member 5), a cell-adhesion molecule of the immunoglobulin superfamily. IgLON proteins are highly glycosylated, contain three Ig-like domains and are normally GPI-anchored to the plasma membrane. They play key roles in neurodevelopment, contributing to neurite outgrowth and synaptogenesis.
A positive test supports the diagnosis of anti-IgLON5 antibody syndrome, an autoimmune neurological disorder with a possible neurodegenerative imprint, typically presenting with complex sleep disturbances – obstructive sleep apnoea, stridor, REM and NREM parasomnias – plus bulbar dysfunction (dysarthria, dysphagia), gait disturbance, oculomotor abnormalities, cognitive deficits and dysautonomia. Anti-IgLON5 antibodies are suspected to promote pathological tau aggregation, linking the syndrome to tauopathies. These recently described autoantibodies are particularly relevant in the differential diagnosis of suspected limbic encephalitis.
Early antibody testing is important, as the syndrome may have a treatable autoimmune component responsive to immunosuppressive therapy, though therapeutic response varies. Results must always be interpreted in the context of the clinical picture, given the broad phenotypic heterogeneity.
Serum, EDTA plasma, heparin plasma, citrate plasma, CSF
IFA cells
Fasting for at least 8-12 hours before sampling
Refer to the Health Service Charter to check storage conditions
+2/+8°C
This test provides the quantitative determination of total tau protein to support the diagnosis of Alzheimer’s disease.
This test provides the quantitative determination of tau protein phosphorylated at threonine 181 (pTau181), to support the diagnosis of Alzheimer’s disease.
Test for the determination of human autoantibodies against NMDAR to support the diagnosis of paraneoplastic neurological syndromes with an intermediate-risk phenotype.
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