MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UK.
J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):846-863. doi: 10.1136/jnnp-2016-313960. Epub 2017 Aug 9.
Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy, for example, cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain-Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.
周围神经病是复杂遗传性神经疾病患者的常见表现，可能为亚临床表现，也可能是表型的主要组成部分。本综述旨在通过解答关键问题，为诊断这组复杂患者提供临床方法，这些问题包括与神经病相关的主要神经综合征，例如痉挛，神经病的类型以及综合征的其他神经和非神经特征。重点在于诊断可治疗的病症。使用这种方法，我们将神经病与以下三个主要综合征类别之一相关联：(1) 共济失调，(2) 痉挛，和 (3) 全面神经发育障碍。不容易归入这三个类别之一的综合征可根据除神经病之外的主要受累系统进行分组，例如心肌病和神经病。我们还包括一类单独的遗传性复发性神经病综合征，其中一些可能类似于格林-巴利综合征，因为许多将具有代谢病因，并且可能具有治疗潜力。
