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Contactin-1 autoimmunity: Serologic, neurologic, and pathologic correlates.

Divyanshu Dubey1, Josephe A Honorat2, Shahar Shelly2

  • 1From the Department of Laboratory Medicine and Pathology, Neurology and Immunology (D.D., J.A.H., S.S., C.J.K., J.R.M., V.A.L., S.J.P., A.M.); Department of Neurology (D.D., J.A.H., S.S., C.J.K., J.R.M., V.A.L., S.J.P., A.M.), Mayo Clinic, Rochester, MN; and Euroimmun (L.K., S.B., C.P.), Lubeck, Germany. dubey.divyanshu@mayo.edu.

Neurology(R) Neuroimmunology & Neuroinflammation
|May 29, 2020
PubMed
Summary

Contactin-1 IgG autoimmunity often presents as sensory predominant neuropathy with pain and demyelination. Consider paraneoplastic causes and targeted immunotherapy for this rare condition.

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Area of Science:

  • Neurology
  • Immunology
  • Neuroimmunology

Background:

  • Autoimmune neuropathies are a diverse group of disorders.
  • Contactin-1 is a cell adhesion molecule implicated in nervous system function.
  • Understanding specific autoantibodies aids in diagnosis and treatment.

Purpose of the Study:

  • To characterize contactin-1 autoimmunity.
  • To determine its frequency, clinical phenotype, and associated features.
  • To guide diagnostic and therapeutic strategies.

Main Methods:

  • Reevaluation of archived sera for contactin-1 immunoglobulin (Ig) G.
  • Confirmation of antibody specificity using recombinant protein assays.
  • Screening of patients with chronic/relapsing demyelinating neuropathies.

Main Results:

  • Identified 10 contactin-1 IgG seropositive cases (2% of tested neuropathies).
  • Common features included sensory predominant presentation (90%), neuropathic pain (60%), and subacute progression (50%).
  • Demyelinating changes on electrophysiology, elevated CSF protein, and nerve root enhancement were noted; 3 cases had paraneoplastic associations.

Conclusions:

  • Contactin-1 IgG autoimmunity presents with distinct sensory and pain features and demyelination.
  • Paraneoplastic etiology should be considered in relevant cases.
  • Testing for contactin-1 IgG can inform immunotherapy selection, particularly for second-line treatments.