James R, Bellone E, Nelis E, Mandich P, Schenone A, Mancardi G, Van Broeckhoven C, Abbruzzese M, Ajmar F
Institute of Biology and Genetics (IBiG), University of Genoa, Italy.
Neurosci Lett. 1995 Jul 14;194(1-2):136-8. doi: 10.1016/0304-3940(95)11717-b.
We describe three patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs) [15]. Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy. We previously reported a genetic study on these three patients, which failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the peripheral myelin protein gene (PMP-22) and suggested an autosomal recessive (AR) inheritance. In this study we described the absence of the most common mutations, which characterized other forms of hereditary motor and sensory neuropathy (HMSN). In particular the absence of molecular changes in the PMP-22 gene definitively sets HMSN with MOs apart from the more common CMT1A, hereditary neuropathy with liability to pressure palsies (HNPP) and progressive sensory-motor polyneuropathy with tomaculous changes at sural nerve biopsy.
我们描述了三名患有先天性运动和感觉神经病变并伴有过多髓鞘折叠（MOs）的患者[15]。临床和电生理特征支持遗传性运动和感觉神经病变的诊断。我们之前报道了对这三名患者的基因研究，该研究未能证实17p11.2染色体的重复或外周髓鞘蛋白基因（PMP - 22）外显子1和2的突变，并提示为常染色体隐性（AR）遗传。在本研究中，我们描述了其他形式的遗传性运动和感觉神经病变（HMSN）所具有的最常见突变的缺失。特别是PMP - 22基因中分子变化的缺失明确地将伴有MOs的HMSN与更常见的CMT1A、易患压迫性麻痹的遗传性神经病变（HNPP）以及在腓肠神经活检时有腊肠样改变的进行性感觉运动性多发性神经病变区分开来。
