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Related Experiment Video

Updated: Aug 2, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth

Joseph M Ferrara1,2, Michael Wiid2, Sean Burke2,3

  • 1Division of Neurology, Department of Internal Medicine, East Carolina University School of Medicine, Greenville, NC, USA.

The Neurohospitalist
|April 17, 2023
PubMed
Summary

We describe a rare case of anti-contactin-associated protein-like 2 autoimmunity causing peripheral nerve hyperexcitability in a patient with Charcot-Marie-Tooth type 4F, exploring potential links.

Keywords:
charcot-marie-tooth type 4Fcontactin-associated protein-like 2dejerine-sottas neuropathyisaac syndromemorvan syndromeneuromyotoniaperiaxin geneperipheral nerve hyperexcitability

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Area of Science:

  • Neurology
  • Autoimmune Disorders
  • Peripheral Neuropathy

Background:

  • Contactin-associated protein-like 2 (CASPR2) autoimmunity is a rare neurological condition.
  • It can manifest as peripheral nerve hyperexcitability or encephalitis.
  • While thymoma is a known trigger in some cases, other associations remain largely unexplored.

Purpose of the Study:

  • To report a unique case of CASPR2 autoimmunity.
  • To investigate the co-occurrence of CASPR2 autoimmunity with Charcot-Marie-Tooth type 4F.
  • To discuss potential underlying mechanisms for this association.

Main Methods:

  • Case report of a patient presenting with anti-CASPR2-related peripheral nerve hyperexcitability.
  • Clinical assessment and diagnostic workup for autoimmune neuropathy.
  • Review of literature for similar cases and potential pathomechanisms.

Main Results:

  • The patient exhibited peripheral nerve hyperexcitability.
  • The condition was associated with Charcot-Marie-Tooth type 4F.
  • This presentation highlights an uncommon comorbidity.

Conclusions:

  • CASPR2 autoimmunity can present with peripheral nerve hyperexcitability.
  • The co-occurrence with Charcot-Marie-Tooth type 4F suggests a potential, previously unrecognized association.
  • Further research is needed to elucidate the mechanisms linking these conditions.