Batten Disease: Diagnosis, Treatment, and Research - 1st Edition - ISBN: 9780120176458, 9780080490311

Batten Disease: Diagnosis, Treatment, and Research, Volume 45

1st Edition

Serial Volume Editors: Krystyna Wisniewski Nanbert Zhong
Serial Editors: Jeffrey Hall Jay Dunlap Theodore Friedmann Francesco Giannelli
eBook ISBN: 9780080490311
Hardcover ISBN: 9780120176458
Imprint: Academic Press
Published Date: 13th April 2001
Page Count: 243
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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.


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.

Readership

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


Details

No. of pages:
243
Language:
English
Copyright:
© Academic Press 2001
Published:
Imprint:
Academic Press
eBook ISBN:
9780080490311
Hardcover ISBN:
9780120176458

Reviews

@qu:"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." @source:—M. Gardiner, University College London, in HUMAN GENETICS (2001)


About the Serial Volume Editors

Krystyna Wisniewski Serial Volume Editor

Affiliations and Expertise

George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.

Nanbert Zhong Serial Volume Editor

Affiliations and Expertise

George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.

About the Serial Editors

Jeffrey Hall Serial Editor

Affiliations and Expertise

Brandeis University, Waltham, MA, USA

Jay Dunlap Serial Editor

Affiliations and Expertise

The Geisel School of Medicine, Dartmouth, NH, USA

Theodore Friedmann Serial Editor

School of Medicine, University of California at San Diego, USA

Affiliations and Expertise

School of Medicine, University of California at San Diego, USA

Francesco Giannelli Serial Editor

Affiliations and Expertise

United Medical and Dental Schools of Guy’s and St. Thomas’ Hospitals, London, U.K.