Alexander Disease: A Guide for Patients and Families

摘要: Abstract This book offers a comprehensive overview of Alexander disease, rare and devastating neurological disorder that often affects the white matter brain spinal cord. Its distinctive neuropathology consists abundant Rosenthal fibers within astrocytes (one four major cell types central nervous system). Nearly all cases are caused by variants in gene encoding intermediate filament protein GFAP, but how these changes GFAP lead to widespread manifestations disease is poorly understood. Astrocytes, while discovered over century ago, themselves still much mystery. They exhibit considerable diversity, defy precise definition, yet actively regulate many aspects system functioning. We also have incomplete understanding fibers, odd structures contain as just one components. Whether they toxic or protective unknown. Moreover, not absolutely unique seen...