Patzko Agnes, Shy Michael E
Wayne State University, Detroit, Michigan 48201, USA.
Continuum (Minneap Minn). 2012 Feb;18(1):39-59. doi: 10.1212/01.CON.0000411567.34085.da.
The inherited peripheral neuropathies are a complex group of disorders caused by mutations in more than 50 genes. Scientifically, these disorders provide extensive information on molecular pathways that cause demyelination, axonal loss, and abnormal interactions between Schwann cells and the axons they ensheathe. Clinically, however, these neuropathies are confusing because it is difficult to determine what gene to test for in a given patient, inheritance patterns may differ among patients, and genetic testing is expensive. This review provides a biological context and guidelines to help neurologists better understand the basis and focus of genetic testing for these disorders.
In the past 5 years, many of the genetic causes of inherited neuropathies have been discovered and the phenotypes of inherited neuropathies have been characterized. Clinical trials of genetic neuropathies are now underway.
It is hoped that this review will lead to a better understanding of these fascinating neuropathies for health care professionals and that this improved understanding will facilitate treatment advances for these presently untreatable diseases.
遗传性周围神经病是一组由50多个基因的突变引起的复杂疾病。从科学角度来看，这些疾病提供了关于导致脱髓鞘、轴突丧失以及施万细胞与其所包裹的轴突之间异常相互作用的分子途径的广泛信息。然而在临床上，这些神经病令人困惑，因为很难确定在特定患者中检测哪个基因，患者之间的遗传模式可能不同，而且基因检测费用昂贵。本综述提供了生物学背景和指南，以帮助神经科医生更好地理解这些疾病的基因检测基础和重点。
在过去5年中，已经发现了许多遗传性神经病的遗传原因，并对遗传性神经病的表型进行了特征描述。遗传性神经病的临床试验正在进行中。
希望本综述能使医护人员更好地理解这些引人入胜的神经病，并且这种更好的理解将促进这些目前无法治愈的疾病的治疗进展。
