Autor(es): Wang Yuh-Jen,Kao Koa-Pei,Lin Kon-Ping

Resumo: 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. 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. The results showed no duplication, deletion or point mutation in the PMP22 gene. PMP22 gene deletion did not play a role in our patients with recurrent GBS and CRP.

Imprenta: Journal of the Chinese Medical Association : JCMA, v. 68, n. 11, p. 513-516, 2005

Identificador do objeto digital: 10.1016/S1726-4901(09)70085-1

Descritores: Guillain-Barre Syndrome - DNA ; Guillain-Barre Syndrome - Pathogenesis Guillain-Barre Syndrome - Proteins ; Guillain-Barre Syndrome - Molecular methods

Data de publicação: 2005

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