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Inherited White Matter Disorders and Their Mimics

  • 1 Edición, Volumen 204 - 23 de septiembre de 2024
  • Última edición
  • Editores: David S. Lynch, Henry Houlden
  • Idioma: Inglés

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, s… Leer más

Descripción

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.

Puntos claves

  • 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

De interès para

Clinical neurologists

Índice

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

Detalles del producto

  • Edición: 1
  • Última edición
  • Volumen: 204
  • Publicado: 23 de septiembre de 2024
  • Idioma: Inglés

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