Alexander Disease: A Guide for Patients and Families by Albee Messing
Requirements: Any PDF Reader, 2mb
Overview: This book offers a comprehensive overview of Alexander disease, a rare and devastating neurological disorder that often affects the white matter of the brain and spinal cord.
Its distinctive neuropathology consists of abundant Rosenthal fibers within astrocytes (one of the four major cell types of the central nervous system). Nearly all cases are caused by variants in the gene encoding the intermediate filament protein GFAP, but how these changes in GFAP lead to the widespread manifestations of disease is poorly understood.
Astrocytes, while discovered over a century ago, are themselves still much of a mystery. They exhibit considerable diversity, defy precise definition, and yet actively regulate many aspects of nervous system functioning.
We also have incomplete understanding of Rosenthal fibers, odd structures that contain GFAP as just one of many components. Whether they are toxic or protective is unknown. Moreover, Rosenthal fibers are not absolutely unique to Alexander disease, and are seen sporadically in a wide variety of other conditions, including brain tumors and multiple sclerosis.
Genre: Non-Fiction> Medicine & Health Sciences
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