国家神经系统疾病临床医学研究中心数据管理与共享系统
Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP)
第一作者：bin chen
通讯作者：zaiqiang zhang
2017-11-03
已发表文章
发表杂志：Journal of Clinical Neuroscience
发表类型: Original Contributions
影响因子(IF): 1.961
PMID: 29108667 Pubmed原文链接 全文下载
主要研究背景及目的
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene.
方法
This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP.
结论
There was no relationship between the Ile92Val variant of LITAF and age of onset in this group, albeit the sample size was very small.
主要结果
Age of onset was within the second decade in five patients, and 46 years of age in one patient. Weakness or numbness in a unilateral lower extremity was the most common symptom in 5 patients, and bilateral sensorineural hearing loss was also detected in one patient.Electrophysiological presentations suggested demyelinating sensory-motor polyneuropathy in the group.Magnetic resonance imaging (MRI) of the cervical and lumbar spine revealed varying degrees of degeneration in five patients, and mild kyphosis of cervical vertebral bodies in 2 teen-aged patients. In addition,cranial MRI of one patient showed scattered demyelination in the frontal lobes. Targeted nextgeneration-sequencing (NGS) revealed a PMP22 deletion in five patients and a heterozygous c.199G>A mutation in exon 4 of PMP22 in one patient. The I92V variant of lipopolysaccharide-induced tumor necrosis factor (LITAF) gene was found in one patient.