Inherited White Matter Disorders and Their Mimics (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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

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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 425
• Erscheinungstermin: 23. September 2024
• Englisch
• ISBN-13: 9780323992107
• Artikelnr.: 72251324

Inhaltsangabe

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