Motor-neuron-disease-like phenotype associated with IgLON5 disease

J Neurol. 2022 Nov;269(11):6139-6144. doi: 10.1007/s00415-022-11262-0. Epub 2022 Jul 20.

Abstract

A growing spectrum of neurological manifestations are being recognized in association with IgLON5 autoimmunity, including recent reports of motor-neuron-disease-like phenotype. Here we describe four cases of IgLON5 autoimmunity with motor neuron involvement and evaluate an additional 109 probable or definite amyotrophic lateral sclerosis cases seen in our neuromuscular clinic for IgLON5-IgG seropositivity. The presence of parasomnias, vocal cord dysfunction or hyperkinetic movements in a patient with motor-neuron-disease-like phenotype should prompt evaluation for IgLON5-IgG autoantibodies. Recognition and treatment of this autoimmune disease with immunosuppressive agents may bring about significant neurological improvement in a minority of cases.

Keywords: Amyotrophic lateral sclerosis; IgLON5 autoimmunity; Motor neuron disease.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis* / complications
  • Autoantibodies
  • Cell Adhesion Molecules, Neuronal
  • Humans
  • Immunoglobulin G
  • Immunosuppressive Agents
  • Motor Neuron Disease* / complications
  • Motor Neurons
  • Phenotype

Substances

  • Autoantibodies
  • Cell Adhesion Molecules, Neuronal
  • IgLON5 protein, human
  • Immunoglobulin G
  • Immunosuppressive Agents