Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication

Muscle Nerve. 2008 Feb;37(2):256-8. doi: 10.1002/mus.20881.


We report a patient with Guillain-Barré syndrome (GBS), characterized by severe tetraparesis, bulbar syndrome, and ophthalmoparesis. The nadir was reached within 1 day, followed by respiratory insufficiency requiring mechanical ventilation. Molecular analysis revealed a duplication at chromosome 17p11.2-12, which is a known genetic cause of Charcot-Marie-Tooth disease type 1A (CMT1A). We suggest that this genotype may comprise a previously unrecognized genetic risk factor for GBS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Disease Progression
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Multigene Family / genetics*
  • Neural Conduction / physiology