Autosornal隐性遗传性运动和感觉神经病变与局部折叠髓鞘

文摘

我们描述10位病人从一个大家庭早发性运动和感觉神经病变。六仍住在书房的时间。在所有情况下,早期运动里程碑已经实现。在出现症状平均年龄是34个月;其中包括进步下肢远端和近端肌肉无力。Pes equinovarus开发的所有患者在童年。轻微的面部弱点存在于四个病人,其中一个还举行了双边面部synkinesia。智力功能在所有情况下都是正常的。没有证据表明增厚的周围神经。所有三个成人患者(平均年龄27年)严重残疾,坐在轮椅上。 Death occurred in the fourth to fifth decade of life and the duration of the illness varied from 27 to 39 years. Motor nerve conduction velocities ranged from 15 to 17 dsec in the upper limbs of the youngest patients, and were undetectable in the adult patients. Sensitive action potentials were almost always absent. In all patients, auditory evoked potentials showed abnormally delayed interpeak I-III latencies. The most prominent pathologic finding was a highly unusual myelin abnormality consisting of irregular redundant loops and folding of the myelin sheath. The genealogic study gave strong evidence of autosomal-recessive inheritance. The molecular analysis failed to demonstrate either duplication in the chromosome 17p11.2-12, point mutations in the four exons of thePMP-22(17 p11.2)和六个外显子的阿宝(1 q21-q25)基因,或联系染色体8问题- 21.1。