Journal of the Chinese Medical Association : JCMA · 2005
Recurrent polyradiculoneuropathy and PMP22 defects.
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Wang Yuh-Jen, Kao Koa-Pei, Lin Kon-Ping
Аннотация
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.
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.