Inherited White Matter Disorders and Their Mimics, Volume 204 discusses where imaging abnormalities and pathology lie predominantly in the CNS white matter. Many acquired causes, such as multiple sclerosis, are readily diagnosed and familiar to the majority of neurologists. However, less common acquired causes and genetic disorders (the leukodystrophies and genetic leukoencephalopathies) often present a diagnostic challenge. The evaluation of patients with White matter disorders (WMDs) has evolved enormously in recent decades, due to advances in genetics, radiology, and the development of treatments for specific disorders. This book brings together WMD research, spanning basic science, molecular genetics, and clinical and radiological phenotyping. This volume presents both common WMDs and rare disorders according to their presentations or pathophysiology. Chapters lay out the clinical and radiological presentation of the disorder, followed by genetics and diagnostics, and finally discussion of pathophysiology and treatment. Chapter contain imaging, clinical pearls to diagnosis, and reference tables for genotype-phenotype correlation. For diagnostic work-up, easy to read algorithms are presented as well as clear guidance on indications for treatment, where applicable.
1. Section I: Introduction - p. x 2. Chapter 1: Neuropathology of white matter disorders - p. 3 3. Chapter 2: Approaches to diagnosis for individuals with a suspected inherited white matter disorder - p. 21 4. Chapter 3: MRI pattern recognition in white matter disease - p. 41 5. Section II: Inherited disorders - p. 50 6. Chapter 4: Primary mitochondrial diseases - p. 53 7. Chapter 5: Vanishing white matter - p. 77 8. Chapter 6: Childhood-inherited white matter disorders with calcification - p. 95 9. Chapter 7: White matter disorders with cerebral calcification in adulthood - p. 117 10. Chapter 8: Adrenoleukodystrophy - p. 133 11. Chapter 9: Peroxisomal leukodystrophy - p. 139 12. Chapter 10: Lysosomal storage diseases - p. 148 13. Chapter 11: White matter abnormalities in amino acid disorders and organic acidurias - p. 173 14. Chapter 12: Inherited white matter disorders: Hypomyelination (myelin disorders) - p. 197 15. Chapter 13: Rare forms of hypomyelination and delayed myelination - p. 225 16. Chapter 14: Amino-acyl tRNA synthetases associated with leukodystrophy - p. 253 17. Chapter 15: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - p. 263 18. Chapter 16: Monogenic causes of cerebral small vessel disease and stroke - p. 273 19. Chapter 17: Familial cerebral amyloid disorders with prominent white matter involvement - p. 289 20. Chapter 18: Disorders with prominent posterior fossa involvement - p. 317 21. Section III: Treatments - p. 332 22. Chapter 19: General approach to treatment of genetic leukoencephalopathies in children and adults - p. 335 23. Chapter 20: Hematopoietic stem cell transplantation in leukodystrophies - p. 355 24. Section IV: Acquired disorders - p. 366 25. Chapter 21: Pediatric inflammatory leukoencephalopathies - p. 369 26. Chapter 22: Adult inflammatory leukoencephalopathies - p. 418 27. Chapter 23: Infectious leukoencephalopathies - p. 431 28. Chapter 24: Toxic leukoencephalopathies - p. 455 29. Index - p. 486
Inherited White Matter Disorders and Their Mimics, Volume 204 discusses where imaging abnormalities and pathology lie predominantly in the CNS white matter. Many acquired causes, such as multiple sclerosis, are readily diagnosed and familiar to the majority of neurologists. However, less common acquired causes and genetic disorders (the leukodystrophies and genetic leukoencephalopathies) often present a diagnostic challenge. The evaluation of patients with White matter disorders (WMDs) has evolved enormously in recent decades, due to advances in genetics, radiology, and the development of treatments for specific disorders. This book brings together WMD research, spanning basic science, molecular genetics, and clinical and radiological phenotyping. This volume presents both common WMDs and rare disorders according to their presentations or pathophysiology. Chapters lay out the clinical and radiological presentation of the disorder, followed by genetics and diagnostics, and finally discussion of pathophysiology and treatment. Chapter contain imaging, clinical pearls to diagnosis, and reference tables for genotype-phenotype correlation. For diagnostic work-up, easy to read algorithms are presented as well as clear guidance on indications for treatment, where applicable.
1. Section I: Introduction - p. x 2. Chapter 1: Neuropathology of white matter disorders - p. 3 3. Chapter 2: Approaches to diagnosis for individuals with a suspected inherited white matter disorder - p. 21 4. Chapter 3: MRI pattern recognition in white matter disease - p. 41 5. Section II: Inherited disorders - p. 50 6. Chapter 4: Primary mitochondrial diseases - p. 53 7. Chapter 5: Vanishing white matter - p. 77 8. Chapter 6: Childhood-inherited white matter disorders with calcification - p. 95 9. Chapter 7: White matter disorders with cerebral calcification in adulthood - p. 117 10. Chapter 8: Adrenoleukodystrophy - p. 133 11. Chapter 9: Peroxisomal leukodystrophy - p. 139 12. Chapter 10: Lysosomal storage diseases - p. 148 13. Chapter 11: White matter abnormalities in amino acid disorders and organic acidurias - p. 173 14. Chapter 12: Inherited white matter disorders: Hypomyelination (myelin disorders) - p. 197 15. Chapter 13: Rare forms of hypomyelination and delayed myelination - p. 225 16. Chapter 14: Amino-acyl tRNA synthetases associated with leukodystrophy - p. 253 17. Chapter 15: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - p. 263 18. Chapter 16: Monogenic causes of cerebral small vessel disease and stroke - p. 273 19. Chapter 17: Familial cerebral amyloid disorders with prominent white matter involvement - p. 289 20. Chapter 18: Disorders with prominent posterior fossa involvement - p. 317 21. Section III: Treatments - p. 332 22. Chapter 19: General approach to treatment of genetic leukoencephalopathies in children and adults - p. 335 23. Chapter 20: Hematopoietic stem cell transplantation in leukodystrophies - p. 355 24. Section IV: Acquired disorders - p. 366 25. Chapter 21: Pediatric inflammatory leukoencephalopathies - p. 369 26. Chapter 22: Adult inflammatory leukoencephalopathies - p. 418 27. Chapter 23: Infectious leukoencephalopathies - p. 431 28. Chapter 24: Toxic leukoencephalopathies - p. 455 29. Index - p. 486
