Inherited White Matter Disorders and Their Mimics

David S. Lynch, Henry Houlden (Herausgeber)

Buch | Hardcover

514 Seiten

2024
Elsevier - Health Sciences Division (Verlag)
978-0-323-99209-1 (ISBN)

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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.

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

Erscheinungsdatum	19.10.2024
Reihe/Serie	Handbook of Clinical Neurology
Verlagsort	Philadelphia
Sprache	englisch
Maße	192 x 262 mm
Themenwelt	Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie
	Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie
	Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
ISBN-10	0-323-99209-9 / 0323992099
ISBN-13	978-0-323-99209-1 / 9780323992091
Zustand	Neuware