Batten Disease: Diagnosis, Treatment, and Research

, by Hall; Dunlap; Friedmann; Giannelli; Wisniewski; Zhong

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ISBN: 9780120176458 | 0120176459
Cover: Hardcover
Copyright: 4/13/2001

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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.

Contributors

Preface

xiii

Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis

(34)

Krystyna E. Wisniewski

Elizabeth Kida

Adam A. Golabek

Wojciech Kaczmarski

Fred Connell

Nan Zhong

Introduction

(7)

Current Classification of NCLs

(2)

CLN1. Diagnostic Criteria and Phenotype-Genotype Correlation

(4)

CLN2. Classic Late-Infantile NCL

(3)

CLN3. Juvenile NCL

(5)

CLN4. Adult NCL

(1)

CLN5. Finnish Late-Infantile Variant

(1)

CLN6. Variant Late-Infantile Gypsy/Indian

(1)

CLN7. Turkish Variant Late-Infantile NCL

(4)

CLN8. Northern Epilepsy

(1)

Summary

(6)

References

(5)

Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses

(34)

Elizabeth Kida

Adam A. Golabek

Krystyna E. Wisniewski

Introduction

(1)

CLN1. Infantile Form of NCL: Deficiency of Palmitoyl-Protein Thioesterase 1

(5)

CLN2. The Classic Late-Infantile NCL: Deficiency of Tripeptidyl-Peptidase I

(7)

CLN3. Juvenile Form of NCL: Genetic Defect of Lyso-somal Membrane Protein

(5)

Other NCL Forms with Known Genetic Defect

(2)

NCL Forms without Identified Genetic Defects

(13)

References

(10)

Positional Candidate Gene Cloning of CLN1

(24)

Sandra L. Hofmann

Amit K. Das

Jui-Yun Lu

Abigail A. Soyombo

Introduction

(1)

Linkage Disequilibrium Mapping of the CLN1 Locus in the Finnish Population

(1)

Palmitoyl-Protein Thioesterase Defines a New Pathway in Lysosomal Catabolism

(1)

Enzymology of PPT

(2)

Posttranslational Processing and Lysosomal Targeting of PPT

(2)

The Physiological Role of PPT

(2)

Palmitoyl-Protein Thioesterase-2 (PPT2)

(1)

The PPT cDNA and Gene

(2)

The Molecular Genetics of CLN1/PPT Deficiency

(5)

Laboratory Diagnosis of PPT Deficiency

(1)

Prospects for Cause-Specific Treatment of PPT Deficiency

(7)

References

(5)

Biochemistry of Neuronal Ceroid Lipofuscinoses

(14)

Mohammed A. Junaid

Raju K. Pullarkat

Introduction

(1)

Genetic Defects

(4)

NCL are Lysosomal Storage Diseases

(2)

Remaining Issues and Future Directions

101

(6)

References

103

(4)

Positional Cloning of the JNCL Gene, CLN3

107

(16)

Terry J. Lerner

Introduction

107

(1)

CLN3 Maps to Chromosome 16

108

(1)

A Subunit 9 Gene Is Not CLN3

109

(1)

Refined Localization of CLN3

109

(2)

Physical Mapping of the CLN3 Candidate Region

111

(2)

Exon Trapping Yields a Candidate cDNA

113

(1)

The Common Mutation in JNCL is a 1-kb Genomic Deletion

113

(2)

Mutational Analysis of the CLN3 Gene

115

(1)

Tissue Expression of CLN3

116

(1)

CLN3 Encodes a Novel Protein

116

(1)

Animal Models of JNCL

117

(6)

References

118

(5)

Studies of Homogenous Populations: CLN5 and CLN8

123

(18)

Susanna Ranta

Minna Savukoski

Pirkko Santavuori

Matti Haltia

Introduction

125

(1)

Clinical Data

125

(2)

Neurophysiology

127

(1)

Neuroradiology

128

(1)

Morphology, Cytochemistry, and Biochemistry

128

(4)

Molecular Genetics and Cell Biology

132

(3)

Diagnosis

135

(2)

Treatment

137

(1)

Mouse Homolog for CLN8

137

(4)

References

138

(3)

Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses

141

(18)

Nanbert Zhong

Introduction

142

(1)

Specimens Required for Genetic Testing

143

(1)

Molecular Genetic Testing for JNCL

144

(5)

Molecular Genetic Testing for LINCL and INCL

149

(2)

Molecular Screening of Carrier Status in NCL Families

151

(1)

Prenatal Diagnostic Testing for NCL

152

(2)

Important Issues in the Molecular Genetic Testing

154

(5)

References

156

(3)

Genetic Counseling in the Neuronal Ceroid Lipofuscinoses

159

(10)

Susan Sklower Brooks

Introduction

159

(1)

Inheritance

160

(1)

Genetics

160

(1)

Diagnostic Confirmation

161

(1)

Genetic Counseling

161

(1)

Carrier Screening

162

(2)

Reproductive Options

164

(1)

Conclusion

165

(4)

References

166

(3)

Neurotropic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinosis

169

(14)

Jonathan D. Cooper

William C. Mobley

Introduction

170

(1)

Mouse Models of NCLs

170

(1)

Characterization of the CNS of Mouse Models of NCLs

171

(2)

Neurotrophic Factors as Potential Therapeutic Agents in Neurodegenerative Disorders?---The Neurotrophic Factor Hypothesis

173

(3)

NTF Expression and Actions beyond the ``Neurotrophic Factor Hypothesis''

176

(1)

Failure of NTF Signaling---A Cause of Neuronal Dysfunction and Degeneration?

177

(1)

Treatment with IGF-1---Implications for the Treatment of NCLs

178

(1)

Toward Clinical Trials of NTFs

179

(4)

References

179

(4)

Animal Models for the Ceroid Lipofuscinoses

183

(22)

Martin L. Katz

Hisashi Shibuya

Gary S. Johnson

The Need for Animal Models

184

(1)

The Human Disorders

184

(2)

Naturally Occurring Ceroid Lipofuscinosis in Animals as Models for the Human Disorders

186

(9)

Animal Models Created through Molecular Genetic Manipulation

195

(3)

Future Directions

198

(7)

References

199

(6)

Experimental Models of NCL: The Yeast Model

205

(12)

David A. Pearce

Introduction

205

(1)

Yeast as a Model for JNCL

206

(4)

What Does Btn1p Do?

210

(3)

Yeast as a Therapeutic Model for JNCL

213

(1)

A Yeast Model for INCL

214

(3)

References

215

(2)

Outlook for Future Treatment

217

(8)

Nanbert Zhong

Krystyna E. Wisniewski

Molecular Cloning for CLN4, CLN6, and CLN7

218

(1)

Characterization of Native Substrates for CLN-Encoded Lysosomal Enzymes

218

(1)

Proteomic Studies of CLN-Encoded Proteins

219

(1)

Uncovering the Pathogenesis of the NCLs

219

(1)

Potential Drugs in Experimental Models May Eventually Lead to Clinical Trials in NCL-Affected Patients

220

(1)

Gene Therapy

221

(4)

References

222

(3)

Appendix: Batten Support Groups

225

(12)

United States of America

225

(5)

Canadian Chapter

230

(1)

European Support Groups

230

(5)

Elsewhere

235

(2)

Index

237

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