Introduction

The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and understanding 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 neurologically relevant gene mutations and their protein products.

Target Audience

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 neurologically relevant gene mutations.

Contributors and Content

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 discussions 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.

Acknowledgment

I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.