Rosenberg R N, Iannaccone S T
Department of Neurology, University of Texas Southwestern Medical Center-Dallas, USA.
Arch Neurol. 1995 Apr;52(4):356-62. doi: 10.1001/archneur.1995.00540280038016.
A significant number of major neurogenetic diseases have been defined at the molecular level in recent years, making it possible to determine precisely the genotype for familial Alzheimer's disease, Huntington's disease, Machado-Joseph disease, dominantly inherited ataxia, Charcot-Marie-Tooth disease, myotonic muscular dystrophy, Duchenne-Becker muscular dystrophy, familial amyotrophic lateral sclerosis, and neurofibromatosis. This information has made it possible to identify the abnormal genotype of at-risk persons for these diseases and for at-risk pregnancies for several of them. Precise molecular diagnoses are thus possible using applied molecular markers. Prevention of disease can be achieved using these molecular markers with genetic counseling and appropriate family planning. Significant progress is being made in this regard with Tay-Sachs disease, Huntington's disease, the dominantly inherited ataxias, and the muscular dystrophies. Further, this molecular genotyping will be of indispensible value to families with these diseases when somatic cell gene therapy becomes available. The field of molecular neurogenetics is moving forward rapidly, and advances in gene identification for these diseases will lead in the near future to the means to prevent many of them.
近年来，大量主要的神经遗传性疾病已在分子水平上得到明确，从而能够精确确定家族性阿尔茨海默病、亨廷顿舞蹈病、马查多-约瑟夫病、显性遗传性共济失调、夏科-马里-图斯病、强直性肌营养不良、杜兴-贝克肌营养不良、家族性肌萎缩侧索硬化症和神经纤维瘤病的基因型。这些信息使得识别这些疾病高危人群以及其中几种疾病高危妊娠的异常基因型成为可能。因此，使用应用分子标记可以进行精确的分子诊断。通过遗传咨询和适当的计划生育，利用这些分子标记可以实现疾病的预防。在这方面，对于泰-萨克斯病、亨廷顿舞蹈病、显性遗传性共济失调和肌营养不良症已经取得了重大进展。此外，当体细胞基因治疗可用时，这种分子基因分型对于患有这些疾病的家庭将具有不可或缺的价值。分子神经遗传学领域正在迅速发展，这些疾病基因识别方面的进展将在不久的将来带来预防其中许多疾病的方法。
