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Updated: Dec 25, 2025
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B
Marcio Luiz Escorcio-Bezerra1, Wladimir Bocca Vieira Rezende Pinto1, Denis Bernardi Bichuetti1
1Department of Neurology, Universidade Federal de São Paulo, SP, Brazil.
Abstract:
Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a wide variation of phenotypes, depending on the localization of the mutation within the gene. Among the most common phenotypes are: an infantile onset disease with extremely slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation) which developed an overlapping immune mediated polyradiculoneuropathy with recurrent episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction block on serial neurophysiologic studies, non-uniform demyelination and good clinical response to prednisone and cyclophosphamide, as evidenced by objective functional recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics have not yet been described associated with a MPZ p.Ser63del mutation. This description adds evidence indicating that a defective structural myelin protein may predispose peripheral nerves to immune attacks.
Insights
A rare Charcot Marie Tooth (CMT) mutation (MPZ p.Ser63del) can trigger an immune attack, mimicking CIDP. This suggests structural myelin defects may predispose nerves to autoimmune responses.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Charcot Marie Tooth (CMT) is a group of inherited neuropathies often caused by mutations in the myelin protein zero (MPZ) gene.
- MPZ mutations lead to diverse phenotypes, including CMT1B (infantile onset, slow nerve conduction) and CMT2I (adult onset, axonal range velocities).
Observation:
- A patient with CMT1B (MPZ p.Ser63del mutation) presented with overlapping immune-mediated polyradiculoneuropathy.
- The patient experienced recurrent quadriparesis and cranial nerve involvement, with reversible conduction block and non-uniform demyelination observed.
- This presentation exhibited Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)-like characteristics.
Findings:
- The patient showed a significant clinical response to prednisone and cyclophosphamide, with objective functional recovery.
- This case is the first to describe CIDP-like features associated with the MPZ p.Ser63del mutation.
Implications:
- This case highlights that mutations in structural myelin proteins, like MPZ, may increase susceptibility to peripheral nerve immune attacks.
- It suggests a potential link between genetic myelin defects and autoimmune neuropathies, expanding our understanding of CMT pathogenesis.
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