遗传性脱髓鞘性神经病中PMP22的超微结构表达

Ultrastructural PMP22 expression in inherited demyelinating neuropathies.

作者信息

Vallat J M, Sindou P, Preux P M, Tabaraud F, Milor A M, Couratier P, LeGuern E, Brice A

出版信息

Ann Neurol. 1996 Jun;39(6):813-7. doi: 10.1002/ana.410390621.

Abstract

Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of the same region causes hereditary neuropathy with liability to pressure palsies (HNPP). We examined the expression of PMP22 in sural nerve biopsies from 2 unrelated patients with CMT-1A, 2 unrelated patients with HNPP, and control patients. The ultrastructural immunocytochemical quantitative analysis of cases of CMT-1A and HNPP showed, respectively, an elevated and reduced expression of PMP22 level compared with controls.

摘要

1型遗传性运动感觉神经病A亚型（CMT-1A）由17号染色体p11.2区域的外周髓鞘蛋白22（PMP22）基因重复所致。同一区域的缺失则导致遗传性压力易感性周围神经病（HNPP）。我们检测了2例无亲缘关系的CMT-1A患者、2例无亲缘关系的HNPP患者以及对照患者腓肠神经活检组织中PMP22的表达。CMT-1A和HNPP病例的超微结构免疫细胞化学定量分析显示，与对照组相比，PMP22水平分别出现升高和降低。