This laboratory assay detects IgG autoantibodies against CASPR1, a paranodal axonal membrane protein that associates with contactin-1 to stabilise axo-glial junctions with Schwann-cell myelin. This interaction is essential for proper saltatory conduction along myelinated axons. Anti-CASPR1 antibodies (typically IgG4) disrupt paranodal structures, leading to immune-mediated injury with myelin detachment and frequent axonal damage.
Clinically, anti-CASPR1 neuropathy presents acutely or subacutely with severe, motor-predominant weakness, often accompanied by intense neuropathic pain, ataxia and sometimes tremor. Cranial nerve involvement may occur. The phenotype can resemble Guillain–Barré syndrome or CIDP, but electrophysiology often shows reversible conduction block with signs of axonal injury. Patients usually respond poorly to IVIG or corticosteroids, whereas rituximab has shown significant efficacy.
In general, the form of autoimmune neuropathy associated with anti-CASPR1 antibodies, together with those associated with anti-NF186, anti-NF155 and anti-CNTN1 antibodies, respectively, falls into the category of “nodopathies” or “autoimmune paranodopathies,” a group of autoimmune neuropathies characterized by autoantibodies against node and paranode adhesion molecules. They have clinical characteristics that are quite distinct from classic CIDP. None show clear signs of inflammation or macrophage-mediated demyelination, and all respond poorly to specific treatments for CIDP. This test is useful and essential in the differential diagnosis and therapeutic management of demyelinating neuropathies.
Serum, plasma
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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