Original Article: PDF OnlyRecurrent Polyradiculoneuropathy andPMP22DefectsWang, Yuh-Jena, b; Kao, Koa-Peib, c; Lin, Kon-Pingb, c, *Author Information aDepartment of Health, Keelung Hospital, Executive Yuan, Taipei, Taiwan, R.O.C. bNational Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C. cThe Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C. *Correspondence to: Dr. Kon-Ping Lin, The Neurological Institute, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C. E-mail: [email protected] Received: January 14, 2005 • Accepted: October 3, 2005 Journal of the Chinese Medical Association: November 2005 - Volume 68 - Issue 11 - p 513-516 doi: 10.1016/S1726-4901(09)70085-1 Metrics Abstract 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. © 2005 by Lippincott Williams & Wilkins, Inc.