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

Background: Guillain-Barré syndrome (GBS) may follow infections with agents that express protein antigens similar to those on normal nerve fibers. It is not yet known what predisposes about 1 in 1000 persons to develop GBS after a Campylobacter jejuni infection. Genetic factors have been reported to be involved in GBS. In this study, we present a patient with a family history of demyelinating neuropathy and a severe course of GBS who showed a duplication on chromosome 17p11.2–12, the gene locus of Charcot-Marie-Tooth disease type 1A.

Methods: We report a patient with GBS characterized by complete tetraparesis, severe bulbar syndrome and ophthalmoparesis with the nadir reached by one day followed by respiratory insufficiency requiring mechanical ventilation. The patient was treated with intravenous immunoglobulin. During the next 4 weeks his neurologic condition improved.

Results: Molecular analysis revealed a chromosome 17p11.2–12 duplication.

Conclusion: Our findings suggest that there may be a genetic overlap of hereditary neuropathies and apparently sporadic GBS. To confirm this hypothesis we propose a systematic analysis of CMT1A locus and other gene loci of hereditary neuropathies in GBS. Taken together, our study underscores the current concept that GBS is a complex disease, in which environmental and genetic factors can contribute to the risk of disease.