Inborn Disorders of Sphingolipid Metabolism (eBook)

Front Cover 1
Inborn Disorders of Sphingolipid Metabolism 4
Copyright Page 5
Table of Contents 10
PREFACE 6
ACKNOWLEDGMENTS 8
CONTRIBUTORS AND PARTICIPANTS 14
PART 1: MORPHOLOGICAL STUDIES 18
CHAPTER 1. ELECTRON MICROSCOPIC OBSERVATIONS IN BATTEN'S DISEASE 20
INTRODUCTION 20
MATERIALS AND METHODS 22
OBSERVATIONS 22
DISCUSSION 29
SUMMARY 38
ACKNOWLEDGMENT 38
REFERENCES 38
CHAPTER 2. JUVENILE FORM OF AMAUROTIC FAMILY IDIOCY. A CONTRIBUTION TO THE MORPHOLOGICAL, HISTOCHEMICAL AND ELECTRON-MICROSCOPIC ASPECTS 40
HISTOCHEMICAL FINDINGS 43
ELECTRON-MICROSCOPIC INVESTIGATIONS 46
ACKNOWLEDGMENT 55
REFERENCES 56
CHAPTER 3. THE MYOCLONIC VARIANT OF CEREBRAL LIPIDOSIS 60
CASE HISTORIES 60
CLINICAL EPICRISIS 63
NEUROPATHOLOGY 63
MICROSCOPIC FINDINGS 66
DISCUSSION 79
SUMMARY 89
REFERENCES 90
CHAPTER 4. ANATOMO-CHEMICAL STUDY OF THE WHITE MATTER IN LATE INFANTILE AMAUROTIC IDIOCY 92
INTRODUCTION 92
PATHOLOGICAL FINDINGS 93
BIOCHEMICAL INVESTIGATIONS 98
RESULTS 99
SUMMARY 106
REFERENCES 107
CHAPTER 5. THE FINE STRUCTURE OF THE BRAIN AND OTHER ORGANS IN NIEMANN-PICK DISEASE 110
CASE REPORTS 110
OBSERVATIONS 112
DISCUSSION 121
ACKNOWLEDGMENTS 122
REFERENCES 122
CHAPTER 6. ELECTRON MICROSCOPIC AND HISTOCHEMICAL STUDIES OF VISCERA IN LIPIDOSES 124
MATERIALS AND METHODS 124
RESULTS 125
DISCUSSION 135
SUMMARY 136
REFERENCES 137
CHAPTER 7. LUXOL-DYE STAINING IN LIPID STORAGE DISEASES 138
INTRODUCTION 138
MATERIALS AND METHODS 138
RESULTS 140
SUMMARY 144
REFERENCES 145
CHAPTER 8. STUDIES ON SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM (VAN BOGAERT-BERTRAND TYPE) 146
CASE REPORTS 147
PATHOLOGICAL FINDINGS 148
MEGALENCEPHALY 154
EXPERIMENTAL STUDIES 155
MATERIALS AND METHODS 156
DISCUSSION 162
REFERENCES 163
CHAPTER 9. THE SYNDROME OF FAMILIAL LEUKODYSTROPHY, ADRENAL INSUFFICIENCY AND CUTANEOUS MELANOSIS 166
CASE REPORTS 166
CHEMICAL ANALYSIS OF WHITE MATTER 174
DISCUSSION 179
REFERENCES 183
PART 2: BIOCHEMICAL STUDIES 184
CHAPTER 10. THE METABOLISM OF GANGLIOSIDES IN CEREBRAL LIPIDOSES 186
METHODS 186
CATABOLISM OF GANGLIOSIDES IN NORMAL BRAIN 187
INFANTILE GAUCHER'S DISEASE 190
TAY-SACHS DISEASE 193
THE LEUKODYSTROPHIES 199
A. KRABBE'S DISEASE 199
B. METACHROMATIC LEUKODYSTROPHY 202
SUMMARY 202
ACKNOWLEDGMENT 202
REFERENCES 202
CHAPTER 11. STUDIES ON THE BIOSYNTHESIS OF GANGLIOSIDES 204
REFERENCES 209
CHAPTER 12. STUDIES ON THE BIOSYNTHESIS OF GANGLIOSIDES 210
MATERIALS AND METHODS 212
DISCUSSION 225
REFERENCES 230
CHAPTER 13. GANGLIOSIDE PATTERNS OF NORMAL AND PATHOLOGICAL BRAINS 232
METHODS 232
RESULTS 234
DEVELOPMENTAL PATTERNS 237
PATHOLOGICAL PATTERNS 240
DISCUSSION 244
ACKNOWLEDGMENTS 246
REFERENCES 247
CHAPTER 14. STRUCTURAL STUDIES OF THE TAY-SACHS GANGLIOSIDE AND ITS NORMAL BRAIN COUNTERPART 248
CHAPTER 15. GANGLIOSIDE FROM TAY-SACHS BRAIN 249
GANGLIOSIDE FROM NORMAL BRAIN 252
SUMMARY 257
ACKNOWLEDGMENT 257
REFERENCES 257
CHAPTER 16. ISOLATION AND STRUCTURAL ANALYSIS OF BRAIN GANGLIOSIDES 258
INTRODUCTION 258
NOMENCLATURE 258
ISOLATION AND ANALYSIS OF MIXED HUMAN BRAIN GANGLIOSIDES 260
CHARACTERIZATIONS OF CHROMATOGRAPHICALLY HOMOGENEOUS PREPARATIONS 262
ADDENDUM 267
REFERENCES 267
CHAPTER 17. THE METABOLISM OF SIALIC ACIDS 268
1. BIOSYNTHETIC REACTIONS 269
2. DEGRADATIVE REACTIONS 273
CONTROL MECHANISMS OF SIALIC ACID METABOLISM 274
CONCLUSIONS 275
REFERENCES 275
CHAPTER 18. COMPARISON OF FOUR ENZYMES FROM BRAIN WHICH HYDROLYZE SPHINGOLIPIDS 278
ACKNOWLEDGMENTS 283
REFERENCES 283
CHAPTER 19. THE NATURE OF THE LIPOPHILIC PORTIONS OF THE BRAIN GANGLIOSIDES 284
INTRODUCTION 284
MATERIALS AND METHODS 284
RESULTS 286
DISCUSSION 288
REFERENCES 289
CHAPTER 20. BRAIN PROTEINS IN THE SPHINGOLIPIDOSES: TAY-SACHS DISEASE PROTEIN 290
METHODS 291
RESULTS 292
DISCUSSION 301
CONCLUSIONS 303
ACKNOWLEDGMENTS 303
REFERENCES 303
CHAPTER 21. COMPARATIVE STUDIES OF NORMAL HUMAN AND TAY-SACHS GANGLIOSIDES—AN IMMUNOCHEMICAL APPROACH 306
RESULTS AND DISCUSSION 307
SUMMARY 317
ACKNOWLEDGMENT 317
REFERENCES 317
CHAPTER 22. VARIATIONS IN LIPID COMPOSITION OF HUMAN BRAIN DURING DEVELOPMENT AND IN THE SPHINGOLIPIDOSES: USE OF TWO-DIMENSIONAL THIN-LAYER CHROMATOGRAPHY 320
MATERIALS AND METHODS 321
RESULTS 325
DISCUSSION 331
ACKNOWLEDGMENTS 333
REFERENCES 333
CHAPTER 23. THE FORMATION OF MEMBRANE AGGREGATES 334
INTRODUCTION 334
METHODS 335
RESULTS 338
DISCUSSION 339
SUMMARY 340
ACKNOWLEDGMENT 341
REFERENCES 341
CHAPTER 24. DETERMINATION OF THE LIPID BASES IN THE LIPIDS OF SPINAL CORD, OPTIC NERVE AND SCIATIC NERVE OF SOME SPECIES 342
EXPERIMENTAL 342
PROCEDURE 344
DETERMINATION OF DIHYDROSPHINGOSINE 349
QUANTITATION OF SPHINGOLIPIDS ON THIN-LAYER CHROMATOGRAMS BY THE NINHYDRIN REACTION OF THE LIPID BASES 350
MOLAR RATIOS BETWEEN PHOSPHOLIPIDS AND SPHINGOLIPIDS IN THE SPINAL CORDS, THE OPTICAND THE SCIATIC NERVES OF SOME SPECIES 350
RATIO BETWEEN THE PHOSPHORUS VALUE OF THE SPHINGOMYELIN FRACTION OF TL-CHROMATOGRAMS(19) AND THAT OF THE TOTAL LIPID FRACTION OF SPINAL CORD, OPTIC AND SCIATIC NERVES 351
RATIO BETWEEN NONPHOSPHORYLATED SPHINGOLIPIDS AND SPHINGOMYELIN IN SPINAL CORD, OPTIC AND SCIATIC NERVES OF SOME SPECIES 351
MOLAR RATIO BETWEEN PHOSPHOLIPIDS AND THE CEREBROSIDE FRACTION OF SPINAL CORD, OPTICAND SCIATIC NERVES OF SOME SPECIES 353
SUMMARY 354
REFERENCES 354
CHAPTER 25. CEREBROSIDE METABOLISM IN EXPERIMENTAL PHENYLKETONURIA AND GALACTOSEMIA 356
METHODS 357
RESULTS 359
DISCUSSION 373
REFERENCES 374
CHAPTER 26. SOME RECENT FINDINGS IN LEUKODYSTROPHIES AND IN GARGOYLISM 376
INTRODUCTION 376
METACHROMATIC LEUKODYSTROPHY (MLD) SULFATIDE LIPIDOSIS
GARGOYLISM AND ITS VARIATIONS 396
ACKNOWLEDGMENT 403
REFERENCES 403
CHAPTER 27. ISOLATION AND CHARACTERIZATION OF THE PRINCIPAL CEREBRAL GLYCOLIPIDS IN THE INFANTILE AND ADULT FORMS OF GAUCHER'S DISEASE 406
CASE REPORTS 407
MATERIAL 408
METHODS 409
RESULTS 410
DISCUSSION 415
SUMMARY 416
ACKNOWLEDGMENTS 416
REFERENCES 416
PART 3: GENETIC AND CLINICAL STUDIES 418
CHAPTER 28. CLINICAL MANIFESTATIONS OF TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE 420
TAY-SACHS DISEASE 421
NIEMANN-PICK DISEASE 425
SUMMARY 428
ACKNOWLEDGMENT 428
REFERENCES 428
CHAPTER 29. THE SLEEP-DREAM PATTERN IN TAY-SACHS DISEASE(PRELIMINARY OBSERVATIONS) 430
INTRODUCTION 430
MATERIAL AND METHOD 433
RESULTS 433
DISCUSSION 436
ACKNOWLEDGMENT 437
REFERENCES 437
CHAPTER 30. ON THE CHEMICAL CHANGES IN THE RED CELL STROMA IN TAY-SACHS DISEASE: THEIR VALUE AS GENETIC TRACERS 440
METHODS 440
RESULTS 441
DISCUSSION 445
SUMMARY 446
REFERENCES 447
CHAPTER 31. REPRODUCTIVE FITNESS AND SELECTION IN TAY-SACHS DISEASE 448
SOURCE OF DATA 448
DEMOGRAPHIC OBSERVATIONS 450
REPRODUCTIVE FITNESS 452
COMMENT 455
REFERENCES 458
CHAPTER 32. PERSISTENCE OF A METABOLIC DEFECT IN TISSUE CULTURES DERIVED FROM PATIENTS WITH NIEMANN-PICK DISEASE 460
INTRODUCTION 460
METHODS 460
RESULTS 463
DISCUSSION 468
ACKNOWLEDGMENTS 469
APPENDIX 469
REFERENCES 470
CHAPTER 33. STUDIES ON THE GENETICS OF THE HURLER-HUNTER SYNDROME 472
INTRODUCTION 472
MATERIAL AND METHODS 472
PHENOGENETICS 474
GENETIC ANALYSIS 478
EXPERIMENTAL APPROACH 481
SUMMARY 488
REFERENCES 489
CHAPTER 34. LEUKOCYTIC HYPERGRANULATION VERSUS LYMPHOCYTIC VACUOLIZATION AS MARKERS FOR HETEROZYGOTES AND HOMOZYGOTES WITH BATTEN-SPIELMEYER-VOGT DISEASE 492
INTRODUCTION 492
MATERIALS AND METHODS 493
RESULTS AND DISCUSSION 496
SUMMARY 501
ACKNOWLEDGMENT 501
REFERENCES 501
CHAPTER 35. THE "LIPOGRANULOMATOSIS" SYNDROME REVIEW, WITH REPORT OF PATIENT SHOWING MILDER INVOLVEMENT
INTRODUCTION 502
PATIENT REPORT 506
RELATIONSHIP TO OTHER CONDITIONS 515
CHEMICAL STUDIES 516
GENETIC CONSIDERATIONS 517
PATHOGENESIS OF THE SYNDROME, WITH CONSIDERATIONS OF THERAPY 518
SUMMARY 518
ACKNOWLEDGMENTS 519
REFERENCES 519
SUMMARY REMARKS 522
INDEX 526