Batten Disease: Diagnosis, Treatment, and Research (Volume 45)
Author(s): Krystyna E. Wisniewski (Editor), Nanbert Zhong (Editor), Jeffrey C. Hall (Series Editor), Jay C. Dunlap (Series Editor), Theodore Friedmann (Series Editor), Francesco Giannelli (Series Editor)
Publisher: Academic Press
Publication Date: 27 April 2001
Language: English
Print length: 243 pages
ISBN-10: 0120176459
ISBN-13: 9780120176458
Book Description
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.
Editorial Reviews
Review
“This book will be of interest to many different readers: clinical geneticists who want an overview of a difficult area; paediatric neurologists who need updating on the advances in molecular genetics of the NCLs; lysosomal cell biologists interested in a new angle on their favourite organelle; neurobiologists and neuropathologists interested in a less well known group of neurodegenerative diseases. For researchers in the field it is a handy reference volume.” —M. Gardiner, University College London, in HUMAN GENETICS (2001)
From the Back Cover
Batten Disease: Diagnosis, Treatment, and Research is a contemporary statement of the current knowledge about Batten disease, also known as neuronal ceroid lipofuscinoses (NCL). NCL is a large group of the most common progressive neurogenetic diseases occurring in infancy and childhood and are heterogeneous from the clinicopathological and genetic viewpoints. Eight forms of NCL and over 100 different mutations, with different pheno/genotypes are now known. This text includes 12 chapters, with tables and illustrations, each cross-referenced and indexed for easy access by the active researcher, clinician, and academic audience, as well as by families with children who have this disorder. A select group of internationally renowned academic and research experts have contributed to this highly anticipated and timely book.
About the Author
School of Medicine, University of California at San Diego, USA
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