Dejerine-sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible “hot spot” on Ser72

✍ Scribed by Wilson Marques Jr.; P. K. Thomas; Mary G. Sweeney; Lucinda Carr; Dr Nicholas W. Wood

• Book ID: 101470258
• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 415 KB
• Volume: 43
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.410430521

✦ Synopsis

the Qand N-types are involved in the ACh release from the parasympathetic nerve.

The present study showed that the anti-VGCC antibody obtained from LEMS specifically inhibited the Parasympathetic response. After long exposure to LEMS IgG, the remaining parasympathetic response was inhibited only by the N-type VGCC blocker GVIA. Furthermore, the immunoprecipitation assay showed that this antibody recognizes the P/Q-type VGCC. Therefore, we conclude that the blocking action of the antibody on the Q-type VGCC at the parasympathetic nerve terminal results in a reduction in the ACh release coupled with this channel. The anti-Ntype VGCC antibody was also positive, but its titer was lower than that of the anti-P/Q-type. Indeed, the antibody did not affect the sympathetic response depending on the N-type VGCC.

The patients whose serum and IgG were used in this study had autonomic dysfunction, including dry mouth, that is attributed to parasympathetic dysfunction. Thus, the present experiments provide evidence that the high levels of antibody titer for the P/Q-type VGCC contribute, at least in part, to the symptom of parasympathetic dysfunction in LEMS.