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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.
List of contents
Section I. Introduction1. Neuroanatomy & Neuropathology of White Matter Disorders
2. Cell biology of myelin
3. Approaches to diagnosis in WMD
4. MRI pattern recognition in white matter disease
Section II. Inherited Disorders5. Mitochondrial Disorders
6. Vanishing White Matter Disease
7. Disorders with calcification in childhood
8. Disorders with calcification or brain iron accumulation in adulthood
9. Adrenoleukodystrophy
10. Other peroxisomal disorders
11. Lysosomal storage disorders
12. Amino Acidopathies and Organic Acid Disorders
13. Hypomyelination (Myelin Disorders)
14. Rare forms of hypomyelination and delayed myelination
15. Chromosomal disorders
16. Very rare orphan disorders of childhood
17. tRNA synthetases
18. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
19. Monogenic small vessel disease
20. Amyloid related disorders
21. Disorders with prominent posterior fossa involvement
Section III. Treatments22. General approach to treatment of genetic leukoencephalopathies in children and adults
23. Haematopoetic stem cell transplant
24. Gene therapy
Section IV. Acquired Disorders25. Acquired vascular disease
26. Paediatric inflammatory leukoencephalopathies
27. Adult inflammatory leukoencephalopathies
28. Infectious leukoencephalopathies
29. Toxic leukoencephalopathies
