Description
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.- Includes common and rare white matter disorders (WMDs)- Summarizes advances in genetics, radiology, and treatments for WMDs- Provides clinical and radiological phenotyping- Contains imaging, diagnostic algorithms, and guidance on treatment
Table of Contents
Section I. Introduction1. Neuroanatomy & Neuropathology of White Matter Disorders2. Cell biology of myelin3. Approaches to diagnosis in WMD4. MRI pattern recognition in white matter diseaseSection II. Inherited Disorders5. Mitochondrial Disorders6. Vanishing White Matter Disease7. Disorders with calcification in childhood8. Disorders with calcification or brain iron accumulation in adulthood9. Adrenoleukodystrophy10. Other peroxisomal disorders11. Lysosomal storage disorders12. Amino Acidopathies and Organic Acid Disorders13. Hypomyelination (Myelin Disorders)14. Rare forms of hypomyelination and delayed myelination15. Chromosomal disorders16. Very rare orphan disorders of childhood17. tRNA synthetases18. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia19. Monogenic small vessel disease20. Amyloid related disorders21. Disorders with prominent posterior fossa involvementSection III. Treatments22. General approach to treatment of genetic leukoencephalopathies in children and adults23. Haematopoetic stem cell transplant24. Gene therapySection IV. Acquired Disorders25. Acquired vascular disease26. Paediatric inflammatory leukoencephalopathies27. Adult inflammatory leukoencephalopathies28. Infectious leukoencephalopathies29. Toxic leukoencephalopathies
