Background: Although immunologic factors play an important role in the pathogenesis of the inflammatory neuropathies, the mechanisms of recurrent episodes of Guillain-Barré syndrome (GBS) and chronic relapsing polyneuropathies (CRP) are not known. Hereditary neuropathy with liability to pressure palsy (HNPP) is an inherited disease caused by a deletion or point mutation in the peripheral myelin protein 22 (PMP22) gene, which may manifest as a recurrent polyradiculoneuropathy. This study tried to elucidate the relationship between PMP22 and recurrent GBS and CRP.
Methods: Between 1993 and 2003, we saw 114 patients with polyradiculoneuropathies or their variants. Only 4 patients had recurrent episodes: 2 had recurrent GBS and 2 had CRP. We analyzed the PMP22 gene to determine its genetic role in these 4 patients. Genomic DNA was extracted from peripheral lymphocytes of all 4 patients using a previously described procedure, and molecular detection of PMP22 deletion was performed.
Results: The results showed no duplication, deletion or point mutation in the PMP22 gene.
Conclusion: PMP22 gene deletion did not play a role in our patients with recurrent GBS and CRP.