Inherited White Matter Disorders and Their Mimics

David Lynch

• 23 september 2024
• 9780323992107

Samenvatting:

Inherited white matter disorders (WMDs) are a large and heterogeneous group 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. There is a need for a book to bring 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