Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus M L
Department of Clinical Neurophysiology, University Central Hospital of Turku, Finland.
Neuromuscul Disord. 1997 Dec;7(8):529-32. doi: 10.1016/s0960-8966(97)00100-4.
An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435,000. The diagnosis was established in 69 patients from 23 unrelated families through family and medical history, clinical neurological and neurophysiological examinations and with documentation of the deletion at gene locus 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, most probably it is still an underestimation. This is the first population-based prevalence figure reported for HNPP. The prevalence is somewhat lower than that obtained for CMT in the same population, which agrees with the proposal that HNPP and CMT 1A are reciprocal products of the same unequal crossing-over. The clinical pictures of our patients were, in general, similar to those previously described in HNPP.
在芬兰西南部一个拥有43.5万人口的地区，开展了一项关于遗传性压力易感性周围神经病（HNPP）的流行病学研究。通过家族史和病史、临床神经学及神经生理学检查，并记录每个家族至少一名成员17p11.2基因位点的缺失情况，确诊了来自23个无亲缘关系家族的69例患者。这得出的患病率至少为16/10万，相当高。然而，由于HNPP隐匿性的特点，很可能实际患病率仍被低估。这是首次报道的基于人群的HNPP患病率数据。该患病率略低于同一人群中遗传性运动感觉神经病（CMT）的患病率，这与HNPP和CMT 1A是同一不等交换的互补产物这一观点相符。我们患者的临床表现总体上与先前描述的HNPP患者相似。
