Genomic medicine enters the neurology clinic

Abstract

Extraordinary advances in genetics and genomics are revolutionizing the practice of medicine. In this issue of Neurology ®, 3 articles demonstrate the utility of exome sequencing for identifying the genetic cause of neurologic disorders. This issue represents a landmark in neurogenetics: the concurrent publication of 3 such examples highlights the rapidly changing landscape driven by exome and genome sequencing, and presages the widespread application of these methods for the diagnosis of neurologic disease. Landoure et al.1 identify a novel mutation in TRPV4 causing a Charcot-Marie-Tooth (CMT) 2C phenotype, missed by Sanger sequencing. They confirmed the pathogenicity of this dominant mutation using calcium imaging in vitro to show that a TRP antagonist reversed the pathogenic increase in calcium and cell death. Sailer et al.2 used exome sequencing to identify the cause of spinocerebellar ataxia (SCA), another condition with marked locus heterogeneity. Here too, …