Jayadev Suman, Smith Corrine O, Bird Thomas D
Departments of Neurology (SJ, COS, TDB) and Medicine (COS, TDB), University of Washington, Seattle; and Geriatric Research Education and Clinical Center (TDB), VA Puget Sound Health Care System, Seattle, Washington.
Neurol Clin Pract. 2011 Dec;1(1):41-48. doi: 10.1212/CPJ.0b013e31823c0f5f.
Clinical neurology has benefitted greatly from recent remarkable advances in molecular genetics. In 1991, we could approximate a patient's risk for Huntington disease (HD) based only on linkage analysis. Now, 20 years later, not only can we identify the HD mutation with certainty, we can do the same with several hundred diseases. Whole genome or exome sequencing will soon allow for one-step interrogation of multiple genes for an even larger range of diseases. The recognition of these genes and their associated proteins in combination with new technology has led to creative new approaches to treatment. The challenge for the practicing neurologist is to provide clinically relevant and accurate interpretation of the genetic test results, with successfully treating once "incurable" neurogenetic diseases our ultimate goal.
临床神经学从分子遗传学最近取得的显著进展中受益匪浅。1991年，我们仅能基于连锁分析来大致估算患者患亨廷顿舞蹈症（HD）的风险。如今，20年后，我们不仅能够确定地识别出HD突变，对于数百种疾病我们也能做到同样的事情。全基因组或外显子组测序很快将能一步检测多种基因，以针对更大范围的疾病。对这些基因及其相关蛋白质的认识，再结合新技术，已经带来了创新的治疗新方法。对于执业神经科医生而言，挑战在于对基因检测结果提供临床相关且准确的解读，而成功治疗曾经“无法治愈”的神经遗传性疾病是我们的最终目标。
