Smith T A, Rasmussen K, Hertz J M
Odense Universitetshospital, neurologisk afdeling N.
Ugeskr Laeger. 1999 Jun 7;161(23):3463-5.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent transient pressure palsies of peripheral nerves and slowing of nerve conduction velocity of the peripheral nerves at common sites of compression. In most cases the molecular basis of the disease is a 1.5 Mb deletion on chromosome 17p11.2. We report four members of a family with different clinical phenotypes. Electrophysiological and genetic studies were consistent with the diagnosis of HNPP. Nerve biopsy is only necessary in patients with a normal result of the molecular genetic analysis. The variability of the clinical phenotype along with asymptomatic individuals could account for an under-recognition of this inherited neuropathy.
遗传性压力易感性周围神经病（HNPP）是一种常染色体显性疾病，其特征为外周神经反复出现短暂性压迫性麻痹，以及外周神经在常见受压部位的神经传导速度减慢。在大多数情况下，该疾病的分子基础是17号染色体p11.2处存在1.5 Mb的缺失。我们报告了一个家族中的四名成员，他们具有不同的临床表型。电生理和遗传学研究结果与HNPP的诊断相符。仅在分子遗传学分析结果正常的患者中才需要进行神经活检。临床表型的变异性以及无症状个体可能导致这种遗传性神经病的诊断不足。
