摘要
遗传性压力敏感性周围神经病(HNPP)是一种常染色体显性遗传的周围神经病。HNPP的分子基础是染色体17p11.2区的一个1.5Mb片段缺失。临床特点为反复发作的在易卡压部位神经受压后,受累神经所支配区域出现运动感觉障碍。本病早期准确诊断后采取预防措施可减少发作。本文就HNPP的病因、临床特点及诊断等作一综述。
Hereditary neuropathy with liability to pressure palsies （HNPP） is an autosomal dominant peripheral neuropathy. The molecular basis of the disease is a deletion of the 1.5-megabase segment on chromosome 17pl 1.2. It is characterized by recurrent transient nerve palsies that occur at sites subject to compression, an early and accurate diagnosis for HNPP can promote preventive measures to avoid nerve pressure, so that recurrent nerve palsies can be reduced. The causes, clinical features and diagnosis are reviewed here.
出处
《中国临床神经科学》
2009年第4期431-435,共5页
Chinese Journal of Clinical Neurosciences
关键词
遗传性压力敏感性周围神经病
周围神经病
遗传性疾病
hereditary neuropathy with liability to pressure palsies
peripheral neuropathy
hereditary neuropathy
