A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia

Muscle Nerve. 2019 Jul;60(1):62-66. doi: 10.1002/mus.26478. Epub 2019 Apr 8.


Introduction: Charcot-Marie-Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial spasm (HFS) and trigeminal neuralgia (TN) have been published.

Methods: Sixty-three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero (MPZ) gene.

Results: Of 27 individuals with the G163R mutation in MPZ, 10 had HFS or TN. Co-existing HFS and TN were found in 3 of these and 4 had bilateral HFS or TN.

Conclusions: This kindred exhibits a distinct CMT phenotype characterized by the development of HFS or TN decades after clinical signs of hereditary neuropathy are manifest. Muscle Nerve, 2019.

Keywords: Charcot-Marie-Tooth disease; cranial neuropathy; familial; hemifacial spasm; hereditary neuropathy; phenotype; trigeminal neuralgia.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Family
  • Female
  • Hemifacial Spasm / complications
  • Hemifacial Spasm / genetics
  • Hemifacial Spasm / physiopathology*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myelin P0 Protein / genetics
  • Pedigree
  • Phenotype
  • Trigeminal Neuralgia / complications
  • Trigeminal Neuralgia / genetics
  • Trigeminal Neuralgia / physiopathology*
  • Young Adult


  • MPZ protein, human
  • Myelin P0 Protein

Supplementary concepts

  • Hemifacial Spasm, Familial