Leblhuber F, Reisecker F, Willeit J, Windhager E, Witzmann A, Mayr W R
Department of Neurophysiology, Wagner Jauregg Krankenhaus, Linz, Austria.
Acta Neurol Scand. 1991 Mar;83(3):166-71. doi: 10.1111/j.1600-0404.1991.tb04670.x.
Clinical, electrophysiologic and biopsy findings as well as studies of blood group markers in a family with hereditary neuropathy with liability to pressure palsies (HNPP) are reported. There was an autosomal dominant trait without genetic linkage between the HNPP gene and blood group markers controlled by chromosome 1. Reduced motor and sensory nerve conduction velocity was found in clinically affected and unaffected nerves. Characteristic morphological changes in sural nerve biopsy including tomaculous swelling were present.
报告了一个患有遗传性压力易感性周围神经病（HNPP）的家族的临床、电生理和活检结果以及血型标志物研究。存在常染色体显性性状，HNPP基因与由1号染色体控制的血型标志物之间无遗传连锁。在临床受累和未受累的神经中均发现运动和感觉神经传导速度降低。腓肠神经活检呈现出包括腊肠样肿胀在内的特征性形态学改变。
