Batten Disease: Diagnosis, Treatment, and Research
- Krystyna Wisniewski, George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.
- Nanbert Zhong, George A. Jervis Diagnostic and Research Center, Staten Island, New York, U.S.A.
- Jeffrey Hall, Brandeis University, Waltham, MA, USA
- Jay Dunlap, The Geisel School of Medicine, Dartmouth, NH, USA
- Theodore Friedmann, School of Medicine, University of California at San Diego, USA
- Francesco Giannelli, United Medical and Dental Schools of Guy's and St. Thomas' Hospitals, London, U.K.
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.View full description
Molecular geneticists, clinical geneticists, neurologists, neuroscientists, pediatricians, molecular biologists, and biochemists.
- Published: April 2001
- Imprint: ACADEMIC PRESS
- ISBN: 978-0-12-017645-8
"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)
Table of ContentsContributors.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.