Batten Disease: Diagnosis, Treatment, and Research

Batten Disease: Diagnosis, Treatment, and Research

by Jeffrey C. Hall
     
 

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

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Overview

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.

Product Details

ISBN-13:
9780120176458
Publisher:
Elsevier Science
Publication date:
04/13/2001
Series:
Biomedical Sciences Series
Pages:
243
Product dimensions:
6.12(w) x 9.21(h) x 0.60(d)

Table of Contents

Contributors.
Preface.
Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis, K.E. Wisniewski, E. Kida, A.A. Golabek, W. Kaczmarski, F. Connell, and N. Zhong.
Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses, E. Kida, A.A. Golabek, and K.E. Wisniewski.
Positional Candidate Gene Cloning of CLN1S.L. Hofmann, A.K. Das, J.-Y. Lu, and A.A. Soyombo.
Biochemistry of Neuronal Ceroid Lipofuscinoses, M.A. Junaid and R.K. Pullarkat.
Positional Cloning of the JNCL Gene, CLN3, T.J. Lerner.
Studies of Homogenous Populations: CLN5 and CLN8, S. Ranta, M. Savukoski, P. Santavuori, and M. Haltia.
Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses, N. Zhong.
Genetic Counseling in the Neuronal Ceroid Lipofuscinoses, S.S. Brooks.
Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinoses, J.D. Cooper and W.C. Mobley.
Animal Models for the Ceroid Lipofuscinoses, M.L. Katz, H. Shibuya, and G.S. Johnson.
Experimental Models of NCL: The Yeast Model, D.A. Pearce.
Outlook for Future Treatment, N. Zhong and K.E. Wisniewski.
Appendix: Batten Support Groups.
Index.

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