Batten Disease: Diagnosis, Treatment, and Research: Diagnosis, Treatment, and Research
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Table of contents
- Copyright Pageiv
- Contentsv
- Contributorsxi
- Prefacexiii
- Chapter 1. Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis1
- I. Introduction3
- II. Current Classification of NCLs10
- III. CLN1. Diagnostic Criteria and Phenotype–Genotype Correlation12
- IV. CLN2. Classic Late-Infantile NCL16
- V. CLN3. Juvenile NCL19
- VI. CLN4. Adult NCL24
- VII. CLN5. Finnish Late-Infantile Variant24
- VIII. CLN6. Variant Late-Infantile Gypsy/Indian25
- IX. CLN7. Turkish Variant Late-Infantile NCL25
- X. CLN8. Northern Epilepsy29
- XI. Summary29
- References30
- Chapter 2. Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses35
- I. Introduction36
- II. CLN1. Infantile Form of NCL: Deficiency of Palmitoyl-Protein Thioesterase 137
- III. CLN2. The Classic Late-Infantile NCL: Deficiency of Tripeptidyl-Peptidase I42
- IV. CLN3. Juvenile Form of NCL: Genetic Defect of Lysosomal Membrane Protein49
- V. Other NCL Forms with Known Genetic Defect54
- VI. NCL Forms Without Identified Genetic Defects56
- Chapter 3. Positional Candidate Gene Cloning of CLN169
- I. Introduction70
- II. Linkage Disequilibrium Mapping of the CLN1 Locus in the Finnish Population71
- III. Palmitoyl-Protein Thioesterase Defines a New Pathway in Lysosomal Catabolism72
- IV. Enzymology of PPT73
- V. Posttranslational Processing and Lysosomal Targeting of PPT75
- VI. The Physiological Role of PPT77
- VII. Palmitoyl-Protein Thioesterase-2 (PPT2)79
- VIII. The PPT cDNA and Gene79
- IX. The Molecular Genetics of CLN1/PPT Deficiency81
- X. Laboratory Diagnosis of PPT Deficiency86
- XI. Prospects for Cause-Specific Treatment of PPT Deficiency86
- References88
- Chapter 4. Biochemistry of Neuronal Ceroid Lipofuscinoses93
- I. Introduction94
- II. Genetic Defects95
- III. NCL are Lysosomal Storage Diseases99
- IV. Remaining Issues and Future Directions101
- References103
- Chapter 5. Positional Cloning of the JNCL Gene, CLN3107
- I. Introduction107
- II. CLN3 Maps to Chromosome 16108
- III. A Subunit 9 Gene Is Not CLN3109
- IV. Refined Localization of CLN3109
- V. Physical Mapping of the CLN3 Candidate Region111
- VI. Exon Trapping Yields a Candidate cDNA113
- VII. The Common Mutation in JNCL is a 1-kb Genomic Deletion113
- VIII. Mutational Analysis of the CLN3 Gene115
- IX. Tissue Expression of CLN3116
- X. CLN3 Encodes a Novel Protein116
- XI. Animal Models of JNCL117
- References118
- Chapter 6. Studies of Homogenous Populations: CLN5 and CLN8123
- I. Introduction125
- II. Clinical Data125
- III. Neurophysiology127
- IV. Neuroradiology128
- V. Morphology, Cytochemistry, and Biochemistry128
- VI. Molecular Genetics and Cell Biology132
- VII. Diagnosis135
- VIII. Treatment137
- IX. Mouse Homolog for CLN8137
- References138
- Chapter 7. Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses141
- I. Introduction142
- II. Specimens Required for Genetic Testing143
- III. Molecular Genetic Testing for JNCL144
- IV. Molecular Genetic Testing for LINCL and INCL149
- V. Molecular Screening of Carrier Status in NCL Families151
- VI. Prenatal Diagnostic Testing for NCL152
- VII. Important Issues in the Molecular Genetic Testing154
- References156
- Chapter 8. Genetic Counseling in the Neuronal Ceroid Lipofuscinoses159
- I. Introduction159
- II. Inheritance160
- III. Genetics160
- IV. Diagnostic Confirmation161
- V. Genetic Counseling161
- VI. Carrier Screening162
- VII. Reproductive Options164
- VIII. Conclusion165
- References166
- Chapter 9. Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinosis169
- I. Introduction170
- II. Mouse Models of NCLs170
- III. Characterization of the CNS of Mouse Models of NCLs171
- IV. Neurotrophic Factors as Potential Therapeutic Agents in Neurodegenerative Disorders?„The Neuro173
- V. NTF Expression and Actions beyond the Neurotrophic Factor HypothesisŽ176
- VI. Failure of NTF Signaling„A Cause of Neuronal Dysfunction and Degeneration?177
- VII. Treatment with IGF-1„Implications for the Treatment of NCLs178
- VIII. Toward Clinical Trials of NTFs179
- References179
- Chapter 10. Animal Models for the Ceroid Lipofuscinoses183
- I. The Need for Animal Models184
- II. The Human Disorders184
- III. Naturally Occurring Ceroid Lipofuscinosis in Animals as Models for the Human Disorders186
- IV. Animal Models Created through Molecular Genetic Manipulation195
- V. Future Directions198
- References199
- Chapter 11. Experimental Models of NCL: The Yeast Model205
- I. Introduction205
- II. Yeast as a Model for JNCL206
- III. What Does Btn1p Do?210
- IV. Yeast as a Therapeutic Model for JNCL213
- V. A Yeast Model for INCL214
- References215
- Chapter 12. Outlook for Future Treatment217
- I. Molecular Cloning for CLN4, CLN6, and CLN7218
- II. Characterization of Native Substrates for CLN-Encoded Lysosomal Enzymes218
- III. Proteomic Studies of CLN-Encoded Proteins219
- IV. Uncovering the Pathogenesis of the NCLs219
- V. Potential Drugs in Experimental Models May Eventually Lead to Clinical Trials in NCL-Affected Pat220
- VI. Gene Therapy221
- References222
- Appendix: Batten Support Groups225
- United States of America225
- Canadian Chapter230
- European Support Groups230
- Elsewhere235
- Index237
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.