Overview of the New European Federation of Neurological Societies’ Guidelines on Molecular Diagnosis of Neurological Disorders

There has been an explosion of knowledge concerning genetic causation of a number of neurological disorders in the last couple of years since the discovery of the gene mutated in Huntington’s disease almost 20 years ago. This has led to the difficulty of making appropriate choice in the use of genetic testing during the diagnostic procedures in such cases. Therefore the European Federation of Neurological Societies (EFNS) has set up a task force to develop guidelines for the general neurologist, and a new series of largely expanded papers has now been published covering the major areas of the field. In this article, the major suggestions established in these guidelines after systematic review of the evidence at hand and experts reaching a consensus are summarised. Currently, there are a number of instances in which molecular testing is of great practical help; however, some instances remain where the place of such a diagnostic tool is not established.