Batten Disease: Diagnosis, Treatment, and Research

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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.

Audience: Molecular geneticists, clinical geneticists, neurologists, neuroscientists, pediatricians, molecular biologists, and biochemists.

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Editorial Reviews

From the Publisher
"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)
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Product Details

  • ISBN-13: 9780120176458
  • Publisher: Elsevier Science
  • Publication date: 4/13/2001
  • 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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