Gess B, Schirmacher A, Young P
Klinik für Neurologie, Sektion für Schlafmedizin und ambulante Neurologie, Universitätsklinikum Münster, Albert-Schweitzer Campus 1, Gebäude A1, 48149, Münster, Deutschland.
Nervenarzt. 2013 Feb;84(2):157-65. doi: 10.1007/s00115-012-3640-4.
Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.
遗传性神经病属于最常见的神经遗传性疾病。它们大多表现为感觉和运动神经病,但也有纯感觉性、纯运动性以及感觉和自主神经性遗传性神经病。在临床实践中,了解遗传性神经病对于在多发性神经病中识别它们并实现成功的基因诊断很重要。遗传性神经病的分子遗传学非常异质,目前已知有40多个致病基因。4个最常见的基因几乎占基因诊断的遗传性神经病的90%。在这篇综述文章中,我们概述了目前已知的基因,并提出了最常见基因的合理基因检测方案。