Inherited White Matter Disorders and Their Mimics

Texte du rabat

Inherited white matter disorders (WMDs) are a large and heterogeneous group 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. There is a need for a book to bring 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.

Contenu

Section I. Introduction 1. 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 Disorders 5. 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. Treatments 22. General approach to treatment of genetic leukoencephalopathies in children and adults 23. Haematopoetic stem cell transplant 24. Gene therapy Section IV. Acquired Disorders 25. Acquired vascular disease 26. Paediatric inflammatory leukoencephalopathies 27. Adult inflammatory leukoencephalopathies 28. Infectious leukoencephalopathies 29. Toxic leukoencephalopathies