Combarros O, Calleja J, Figols J, Cabello A, Berciano J
J Neurol Sci. 1983 Oct;61(2):181-91. doi: 10.1016/0022-510x(83)90004-7.
This report describes the genetic, clinical, electrophysiological and sural nerve biopsy features in 26 affected members and 21 unaffected relatives from 4 families with autosomal dominant inherited motor and sensory neuropathy (HMSN), Type I. In all age categories, the proportion of affected to unaffected individuals at risk did not significantly differ from the expected 50%. The peak age of onset was in the first decade. There was a complete concordance between nerve conduction velocity in the propositi and that in their affected relatives within each family. Marked slowing of conduction velocities was present as early as the age of 2.5 years, while precocious clinical signs and symptoms were quite subtle. Determination of conduction velocity is a valuable aid aid to the early diagnosis of the disease.
本报告描述了来自4个常染色体显性遗传性运动和感觉神经病（HMSN）I型家族的26名患病成员和21名未患病亲属的基因、临床、电生理及腓肠神经活检特征。在所有年龄组中，有患病风险的个体中患病与未患病的比例与预期的50%无显著差异。发病高峰年龄在第一个十年。每个家族中先证者与其患病亲属的神经传导速度完全一致。早在2.5岁时就出现了明显的传导速度减慢，而早熟的临床体征和症状相当不明显。传导速度的测定对该病的早期诊断有重要帮助。
