Neurogenetics: Methods and Protocols (Methods in Molecular Biology, 217)

The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular Biology™ series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.

The rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms of neurological diseases, but also for improving their diagnosis and management. In Neurogenetics: Methods and Protocols, an international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing these genes, their mutations, and their proteins. Providing detailed step-by-step instructions to ensure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. Each method has been thoroughly tested and includes notes on troubleshooting and avoiding pitfalls.
Comprehensive and timely, Neurogenetics: Methods and Protocols offers academic neurologists and clinical laboratory diagnosticians an authoritative collection of readily reproducible techniques that can greatly assist with the diagnosis, management, and understanding of the pathophysiologic mechanisms of neurological diseases.