Thomas P K, Claus D, King R H
University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.
J Neurol. 1999 Feb;246(2):107-12. doi: 10.1007/s004150050316.
A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.
本文描述了一个具有假定常染色体隐性遗传的家系，其中三个兄弟姐妹患有一种进行性神经病变，其合并肢体无力和严重的远端感觉丧失，导致明显的致残性改变。电生理和神经活检结果表明为轴索性神经病。因此，该疾病可归类为II型遗传性运动和感觉神经病（HMSN II）。其临床特征与先前报道的常染色体隐性HMSN II病例不同。因此，这种疾病可能代表一种新的变异型。
