Neurogenetics: Scientific and Clinical Advances PDF

Preface

In the past decade, no field of neurology has changed more than that of neurogenetics. Once limited to the clinical description of rare, inherited neurologic disease, the introduction of molecular technologies and genomic medicine approaches have allowed for more precise diagnosis, better scientific understanding of the pathophysiology, and introduction of novel therapies for neurogenetic disease. Molecular technology has also broadened the field to recognize genetic contributions and significance in complex diseases, such as Parkinson's disease, epilepsy, and Alzheimer's disease, leading to advances in the understanding and treatment of these disorders as well. These advances demand greater knowledge of basic genetic principles, the ability to translate the utility of genetic advances into clinical practice, appreciation for ethical issues raised by genetic testing, and recognition of a growing group of conditions in neurogenetic disease, from clinical neurology practitioners, academic neurologists, and neuroscience researchers.

The huge volume of information on neurogenetic disease now allows the clinician to answer more clinical and diagnostic questions than previously and potentially allows researchers to ask new questions directed at disease mechanisms. However, understanding the utility of these advances is not easy, and the limitations of genetic approaches are frequently misunderstood. In addition, new ethical dilemmas arise in situations such as predictive genetic testing, in which a genetic test can be used to inform individuals of whether they will eventually acquire a disease years before they may feel any symptoms. Paradigms for application of such testing to patients are frequently unfamiliar to even some of the best-informed clinicians. The present book should allow clinicians and researchers to be familiar with modern neurogenetic approaches and information, and apply that information to the questions that arise in practice and research.