Lynch David R, Farmer Jennifer
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.
J Neuroophthalmol. 2002 Dec;22(4):297-304. doi: 10.1097/00041327-200212000-00007.
Over the past 15 years, molecular genetic advances have led to new approaches for evaluation of neurogenetic disease. New diagnostic tests are available, and in some cases new diseases have been defined. However, effective use of these new tests still relies on solid clinical assessment to prioritize testing and interpret results. This review presents applications of genetic advances to a series of neurogenetic disorders, emphasizing the specific uses of genetic testing and the clinical questions that may arise. The rapid expansion in molecular diagnostics and genomics has fundamentally changed the approach to neurogenetic illnesses. Use of molecular biologic techniques has elucidated new disease mechanisms and allowed the application of genetic concepts to classically nongenetic illnesses. This has led to a wealth of new clinical information and created new dilemmas in patient care. In addition, it has brought into common usage a series of clinical genetic terms, such as variable expressivity (the range of phenotypic features in which the same disease can manifest) and anticipation (the progressively earlier age of onset of a specific disease in a family). This review provides a practical approach for neurogenetic evaluation of individuals who are likely to present in neuro-ophthalmologic practices with inherited ataxias, myotonic dystrophy, oculopharyngeal dystrophy, and Parkinson disease.
在过去的15年里，分子遗传学的进展带来了评估神经遗传性疾病的新方法。新的诊断测试已经出现，在某些情况下还定义了新的疾病。然而，有效使用这些新测试仍然依赖于扎实的临床评估，以便确定测试的优先级并解释结果。本综述介绍了遗传学进展在一系列神经遗传性疾病中的应用，强调了基因检测的具体用途以及可能出现的临床问题。分子诊断学和基因组学的迅速发展从根本上改变了神经遗传性疾病的研究方法。分子生物学技术的应用阐明了新的疾病机制，并使遗传学概念能够应用于传统上认为是非遗传性的疾病。这带来了大量新的临床信息，并在患者护理方面产生了新的困境。此外，它还使一系列临床遗传学术语得到了广泛应用，如可变表达（同一疾病可能表现出的一系列表型特征）和遗传早现（特定疾病在一个家族中发病年龄逐渐提前）。本综述为可能在神经眼科诊所就诊的患有遗传性共济失调、强直性肌营养不良、眼咽型肌营养不良和帕金森病的个体提供了一种实用的神经遗传学评估方法。
