Recurrent polyradiculoneuropathy and PMP22 defects.
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.


CONCLUSIONS
PMP22 gene deletion did not play a role in our patients with recurrent GBS and CRP.
Wang
Yuh-Jen
YJ
Department of Health, Keelung Hospital, Executive Yuan, Taiwan, ROC.
Kao
Koa-Pei
KP
Lin
Kon-Ping
KP
D000328:Adult; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D011129:Polyradiculoneuropathy / Q000235:genetics*; D012008:Recurrence
D009185:Myelin Proteins; C073687:PMP22 protein, human