Batten Disease: Diagnosis, Treatment, and Research

Batten Disease: Diagnosis, Treatment, and Research, 1st Edition

Batten Disease: Diagnosis, Treatment, and Research, 1st Edition,Jeffrey Hall,Jay Dunlap,Theodore Friedmann,Francesco Giannelli,Krystyna Wisniewski,Nanbert Zhong,ISBN9780080490311

Hall   &   Dunlap   &   Friedmann   &   Giannelli   &   Wisniewski   &   Zhong   

Academic Press



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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.


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

Jeffrey Hall

Affiliations and Expertise

Brandeis University, Waltham, MA, USA

View additional works by Jeffrey C. Hall

Jay Dunlap

Affiliations and Expertise

Dartmouth Medical School, Hanover, NH, USA

View additional works by Jay C. Dunlap

Theodore Friedmann

Affiliations and Expertise

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

View additional works by Theodore Friedmann

Francesco Giannelli

Affiliations and Expertise

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

View additional works by Francesco Giannelli

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.

Batten Disease: Diagnosis, Treatment, and Research, 1st Edition

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.

Quotes and 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)
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