Warner L E, Garcia C A, Lupski J R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Annu Rev Med. 1999;50:263-75. doi: 10.1146/annurev.med.50.1.263.
Hereditary peripheral neuropathies, among the most common genetic disorders in humans, are a complex, clinically and genetically heterogeneous group of disorders that produce progressive deterioration of the peripheral nerves. This group of disorders includes hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. Our understanding of these disorders has progressed from the description of the clinical phenotypes and delineation of the electrophysiologic and pathologic features to the identification of disease genes and elucidation of the underlying molecular mechanisms.
遗传性周围神经病是人类最常见的遗传性疾病之一，是一组复杂的、临床和遗传异质性疾病，可导致周围神经进行性退化。这组疾病包括易患压迫性麻痹的遗传性神经病、夏科-马里-图斯病、德热里纳-索塔斯综合征和先天性髓鞘形成低下性神经病。我们对这些疾病的认识已从临床表型的描述、电生理和病理特征的界定，发展到疾病基因的鉴定以及潜在分子机制的阐明。
