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A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain

K Reyes-Marin1, J Jimenez-Pancho, Lidia Pozo

  • 1Department of Clinical Neurophysiology, Hospital Ramon y Cajal, Ctra. de Colmenar Viejo km. 9, 100 28034 Madrid, Spain. kermkaren@gmail.com

Clinical Neurology and Neurosurgery
|February 1, 2011
PubMed

Insights

A rare myelin protein zero (MPZ) mutation caused a late-onset form of Charcot-Marie-Tooth disease (CMT). This mutation also led to unusual brain white matter lesions, expanding our understanding of MPZ-related neuropathies.

Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Demyelinating Diseases

Background:

  • Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies.
  • Mutations in the myelin protein zero (MPZ) gene are a known cause of CMT, but less common than PMP22 duplications.
  • MPZ mutations can present with diverse clinical phenotypes.

Observation:

  • A novel homozygous MPZ mutation was identified in a patient with CMT.
  • The patient exhibited a late-onset demyelinating neuropathy.
  • The patient also presented with brain white matter lesions.

Findings:

  • The identified MPZ mutation is novel and associated with a unique late-onset demyelinating profile.
  • The homozygous nature of the mutation may contribute to the specific clinical presentation.
  • Brain white matter lesions were observed, suggesting a potential link to the MPZ mutation.

Implications:

  • This case expands the known spectrum of MPZ-related Charcot-Marie-Tooth disease.
  • The findings suggest that MPZ mutations can have central nervous system effects, including white matter lesions.
  • Further research is warranted to elucidate the mechanisms underlying these central nervous system manifestations.

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