Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22

Neurogenetics. 2025 Mar 24;26(1):37. doi: 10.1007/s10048-025-00808-9.

Abstract

We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years with frequent clear responses to immunotherapies and was finally diagnosed with Charcot-Marie-Tooth disease (CMT) with a rare point mutation in PMP22 (c.320G > A, p.G107D). Some patients diagnosed with young-onset CIDP may have underlying CMT, and extensive genetic testing including point mutations of PMP22 gene is required not to miss the diagnosis.

Keywords: Charcot-Marie-Tooth disease (CMT); Chronic inflammatory demyelinating polyneuropathy (CIDP); Optic neuritis; PMP22; Point mutation.

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / therapy
  • Female
  • Humans
  • Immunotherapy*
  • Myelin Proteins* / genetics
  • Point Mutation*
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / therapy
  • Young Adult

Substances

  • Myelin Proteins
  • PMP22 protein, human