Inherited White Matter Disorders and Their Mimics
- 1st Edition, Volume 204 - September 23, 2024
- Editors: David S. Lynch, Henry Houlden
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 9 9 2 0 9 - 1
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 9 2 1 0 - 7
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… Read more
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Request a sales quoteInherited 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
Clinical neurologists
- Cover image
- Title page
- Table of Contents
- Series Page
- Copyright
- Handbook of Clinical Neurology 3rd Series
- Foreword
- Preface
- Contributors
- Section I: Introduction
- Chapter 1 Neuropathology of white matter disorders
- Abstract
- Classification of Leukodystrophies
- White Matter Composition and Associated Genetic Defects Resulting in Leukodystrophy
- Gene Defects Targeting Certain Organelles, Nucleic Acids, or Organic Acids
- Neuropathology of Hypomyelinating Disorders
- Neuropathology of Vascular Diseases Causing Leukodystrophy
- Neuropathology of Leukodystrophies Associated With Cystic Degeneration and Gliosis
- References
- Chapter 2 Approaches to diagnosis for individuals with a suspected inherited white matter disorder
- Abstract
- Introduction
- Conclusion
- References
- Chapter 3 MRI pattern recognition in white matter disease
- Abstract
- Introduction
- General Approach
- Acquired Disorders
- Leukodystrophies
- The Role of MR Spectroscopy
- The Spinal Cord in Leukodystrophies
- Pitfalls
- Conclusions
- The Future
- References
- Section II: Inherited disorders
- Chapter 4 Primary mitochondrial diseases
- Abstract
- Introduction
- Epidemiology
- Genetics
- Clinical Features
- Investigations
- Cerebral White Matter Involvement
- Management
- Conclusions
- References
- Chapter 5 Vanishing white matter
- Abstract
- History
- Clinical Manifestations
- Radiologic Manifestations
- Pathology
- Genetics
- Incidence and Prevalence
- Disease Models
- Physiologic Roles of eIF2B
- Pathophysiology of VWM
- Biomarkers
- Treatment
- Conclusion
- Acknowledgments
- References
- Chapter 6 Childhood-inherited white matter disorders with calcification
- Abstract
- Introduction
- Differential Diagnosis
- Type 1 Interferonopathies
- Aicardi-Goutières Syndrome
- Coats Plus (CP) and Leukoencephalopathy With Calcifications and Cysts (LCC)
- Coats Plus Disease
- Leukoencephalopathy With Calcifications and Cysts (LCC) (Labrune Syndrome)
- Cystic Leukoencephalopathy Without Macrocephaly (RNASET2 Mutation)
- Other Disorders Featuring Leukoencephalopathy and Calcification
- References
- Chapter 7 White matter disorders with cerebral calcification in adulthood
- Abstract
- Introduction
- Physiologic Cerebral Calcification
- Pathologic Cerebral Calcification
- Metabolic Causes of Leukodystrophies With Cerebral Calcification
- Leukoencephalopathies With Predominant Basal Ganglia Calcification
- Leukoencephalopathies With Calcification and Cysts
- Vascular Leukoencephalopathies Associated With Cranial Calcification
- Cerebral Calcification in Diseases Involving the Immune System
- Other Causes of Brain Calcification in Adults
- Diagnostic Approaches
- Neuroimaging Evaluation
- Genetic Testing
- Management of Patients With Leukoencephalopathies and Calcifications
- Conclusion
- References
- Chapter 8 Adrenoleukodystrophy
- Abstract
- Introduction
- Diagnosing adrenoleukodystrophy
- Clinical Features of Adrenoleukodystrophy
- Treatment of ALD
- Prognosis of ALD
- Conclusions
- References
- Chapter 9 Peroxisomal leukodystrophy
- Abstract
- The Discovery of Peroxisomes
- Cell Biology and Biochemistry
- Clinical Features and Diagnosis of Specific Peroxisomal Disorders Associated with MRI Abnormalities
- Peroxisomal metabolic disorders and leukodystrophy
- Conclusion
- References
- Chapter 10 Lysosomal storage diseases
- Abstract
- Introduction
- Demyelinating Leukodystrophies
- Hypomyelinating Leukodystrophies
- Lysosomal Leukoencephalopathies
- Summary
- References
- Chapter 11 White matter abnormalities in amino acid disorders and organic acidurias
- Abstract
- Introduction
- Disorders of Amino Acid Synthesis
- Disorders of Amino Acid Breakdown
- Conclusions
- References
- Chapter 12 Inherited white matter disorders: Hypomyelination (myelin disorders)
- Abstract
- Pelizaeus–Merzbacher Disease and PLP1-Related Disorders
- Pelizaeus–Merzbacher-like Disease (PMLD)
- POLR3-Related Leukodystrophy (POLR3-HLD)
- Acknowledgments
- References
- Chapter 13 Rare forms of hypomyelination and delayed myelination
- Abstract
- Introduction
- H-ABC, TUBB4A-, and UFM1-Related Leukodystrophies
- POLR3-Related Leukodystrophy (4H Syndrome, Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism)
- Hypomyelination and Congenital Cataract (HCC)
- Peripheral Demyelinating Neuropathy, Central Leukodystrophy, Waardenburg Syndrome, and Hirschsprung (PCWH)
- Fucosidosis
- Free Sialic Acid Storage Disorders (FSASD): Salla Disease (SD) and Infantile Free Sialic Acid Storage Disease (ISSD)
- OculoDentoDigital Dysplasia (ODDD)
- Mucolipidosis Type IV (ML-IV)
- TMEM106B-Related Leukoencephalopathy
- Infantile-Onset Transient Hypomyelination Due to TMEM63A Mutation
- NKX6.2-Related Leukodystrophy
- Allan–Hernon–Dudley Syndrome (AHDS)/MCT8 Deficiency
- Serine Metabolism Disorders
- PYCR2-related leukoencephalopathy
- FOLR1-Related Cerebral Folate Deficiency
- VPS-11 Deficiency (V11D)
- HSPD1-Related Leukoencephalopathy
- WT1-Related Leukoencephalopathy
- X-Linked Hypomyelination With Spondylometaphyseal Dysplasia (Miyake et al., 2017) (H-SMD)
- ACBD5 Deficiency
- SLC33A1-Related Leukoencephalopathy
- ELOVL1-Related Leukodystrophy
- RNF220-Related Leukodystrophy (Autosomal Recessive Leukodystrophy With Ataxia and Sensorineural Deafness, AR-LAD)
- HIKESHI-Related Leukoencephalopathy
- SNAP29-Related Leukoencephalopathy
- CLDN11-Related Leukodystrophy
- Final Remarks
- References
- Chapter 14 Amino-acyl tRNA synthetases associated with leukodystrophy
- Abstract
- Introduction
- Amino-Acyl tRNA Synthetases and Human Disease
- Diagnosis in ARS Deficiency
- Model Systems and Pathophysiology
- Amino-Acyl tRNA Synthetases and Leukodystrophy
- Conclusion
- References
- Chapter 15 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Abstract
- Background and Nomenclature
- CSF1R
- AARS2
- AARS
- References
- Chapter 16 Monogenic causes of cerebral small vessel disease and stroke
- Abstract
- Introduction
- When Should a Monogenic cSVD be Considered? How to Diagnose a Monogenic cSVD?
- The Monogenic cSVDs Already Identified to Date
- Principles of Clinical Management of Patients
- Conclusion
- References
- Chapter 17 Familial cerebral amyloid disorders with prominent white matter involvement
- Abstract
- Introduction
- Hereditary Non-Aβ Cerebral Amyloidosis
- Hereditary Disorders of Cerebral Aβ Deposition
- Genetic Risk Factors in Aβ-Related Disorders
- Conclusion
- References
- Chapter 18 Disorders with prominent posterior fossa involvement
- Abstract
- Introduction
- References
- Section III: Treatments
- Chapter 19 General approach to treatment of genetic leukoencephalopathies in children and adults
- Abstract
- Nervous System
- Mental Health and Neuropsychologic Functions
- Muscoloskeletal System
- Mobility and Balance
- Skin
- Gastrointestinal Tract and Nutrition
- Respiratory System
- Cardiovascular System
- Urinary System
- Endocrine System
- Ophthalmologic and Visual Issues
- Hearing Deficits
- Symptoms Related to Infections
- Autoimmune Disorders
- Coordination of Care
- Conclusions
- References
- Chapter 20 Hematopoietic stem cell transplantation in leukodystrophies
- Abstract
- Introduction
- Therapeutic Options for Leukodystrophies
- Hematopoietic Stem Cell Transplantation in Leukodystrophies
- Hematopoietic Stem Cell Transplantation in Adrenoleukodystrophy
- Hematopoietic Stem Cell Transplantation in Metachromatic Leukodystrophy
- Hematopoietic Stem Cell Transplantation in Krabbe Disease
- Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukodystrophy
- Concluding Remarks
- References
- Section IV: Acquired disorders
- Chapter 21 Pediatric inflammatory leukoencephalopathies
- Abstract
- Introduction: Acquired Demyelinating Syndromes
- Pediatric MS
- Management
- Pediatric AQP4-NMOSD
- Pediatric MOGAD
- Mimics of ADS
- Future Directions
- References
- Chapter 22 Adult inflammatory leukoencephalopathies
- Abstract
- Introduction
- Inflammatory Leukoencephalopathies: A Diagnostic Approach
- Inflammatory Leukoencephalopathies That May Mimic Hereditary Leukodystrophies
- References
- Chapter 23 Infectious leukoencephalopathies
- Abstract
- Introduction
- Human Immunodeficiency Virus Infection
- John Cunningham Virus/Human Polyomavirus 2 Infection
- Herpes Simplex Virus 1 and 2 Infections
- Human Herpesvirus 6 Infection
- Varicella Zoster Virus Infection
- Epstein–Barr Virus Infection
- Subacute Sclerosing Panencephalitis
- Progressive Rubella Panencephalitis
- Human T-Lymphocytic Virus 1 Infection
- BK Virus Infection
- Chikungunya Virus Infection
- Nipah Virus Infection
- Flaviviruses Infections
- Toxocara
- Trypanosomiasis
- Toxoplasmosis
- Whipple Disease
- Lyme Disease
- Conclusion
- References
- Chapter 24 Toxic leukoencephalopathies
- Abstract
- Introduction
- Pathophysiology
- Imaging Patterns
- Specific Toxic–Metabolic Leukoencephalopathies
- References
- Further reading
- Index
- No. of pages: 514
- Language: English
- Edition: 1
- Volume: 204
- Published: September 23, 2024
- Imprint: Elsevier
- Hardback ISBN: 9780323992091
- eBook ISBN: 9780323992107
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