Neurogenetics: Five new things

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.