Molecular genetics of hereditary motor and sensory neuropathy with pyramidal signs

该项目旨在通过染色体连锁研究确定锥体体征遗传性运动神经病的分子病因，并筛选合适的家系来定位具有致病突变的基因。我们建议利用人类基因组计划的资源来定位缺陷基因。在之前的研究中，我们已经使用这些方法来鉴定另外两种遗传性神经疾病的基因。我们的数据表明，这种疾病是尚未定义的最大遗传性神经疾病组的一部分。由于这种疾病会影响长脊髓神经元，因此识别突变基因并研究其功能可能有助于揭示其他脊髓疾病的可能机制。这项研究是一项系统的研究，应该有助于识别导致疾病的异常基因。一旦知道了相关基因，就会开发出一种有效的诊断测试。当这种疾病的测试可用时，我们很可能会发现这种疾病比以前认识到的更常见。了解该基因的功能将有助于了解疾病是如何发展的，并最终将使有效治疗方法的开发成为可能。

This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neuropathies yet to be defined. Because this disorder affects long spinal cord neurones, identifying the mutated gene and studying its function may shed light on possible mechanisms involved in other spinal cord diseases. This research is a systematic search and should lead to identifying the abnormal gene causing disease. Once the gene involved is known then an effective diagnostic test will be developed. When a test for the disease is available, it is likely that we will find that the disorder is more common than previously recognised. Knowledge of the function of the gene will lead to an understanding of how the disease develops and will eventually enable development of effective treatments.