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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.
- 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.
Foreword
Preface
Contributors
Introduction
Neuropathology of white matter disorders
Approaches to diagnosis for individuals with a suspected inherited white matter disorder
MRI pattern recognition in white matter disease
Inherited disorders
Primary mitochondrial diseases
Vanishing white matter
Childhood-inherited white matter disorders with calcification
White matter disorders with cerebral calcification in adulthood
Adrenoleukodystrophy
Peroxisomal leukodystrophy
Lysosomal storage diseases
White matter abnormalities in amino acid disorders and organic acidurias
Inherited white matter disorders: Hypomyelination (myelin disorders)
Rare forms of hypomyelination and delayed myelination
Amino-acyl tRNA synthetases associated with leukodystrophy
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Monogenic causes of cerebral small vessel disease and stroke
Familial cerebral amyloid disorders with prominent white matter involvement
Disorders with prominent posterior fossa involvement
Treatments
General approach to treatment of genetic leukoencephalopathies in children and adults
Hematopoietic stem cell transplantation in leukodystrophies
Acquired disorders
Pediatric inflammatory leukoencephalopathies
Adult inflammatory leukoencephalopathies
Infectious leukoencephalopathies
Toxic leukoencephalopathies
Further reading
Index