Batten Disease: Diagnosis, Treatment, and Research

Batten Disease: Diagnosis, Treatment, and Research

1st Edition - April 13, 2001

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  • Editors: Jeffrey Hall, Jay Dunlap, Theodore Friedmann, Francesco Giannelli
  • eBook ISBN: 9780080490311

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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.

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.

Product details

  • No. of pages: 243
  • Language: English
  • Copyright: © Academic Press 2001
  • Published: April 13, 2001
  • Imprint: Academic Press
  • eBook ISBN: 9780080490311

About the Serial Editors

Jeffrey Hall

Affiliations and Expertise

Brandeis University, Waltham, MA, USA

Jay Dunlap

Affiliations and Expertise

The Geisel School of Medicine, Dartmouth, NH, USA

Theodore Friedmann

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

Affiliations and Expertise

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

About the Serial Volume Editors

Krystyna Wisniewski

Affiliations and Expertise

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

Nanbert Zhong

Affiliations and Expertise

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

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