Alexander Disease

📋Overview

This condition is classified as a leukodystrophy and involves the progressive deterioration of the myelin sheath, which serves as the protective insulation for nerve fibers in the brain. This deterioration may disrupt the normal transmission of electrical impulses, contributing to a decline in neurological functions over time.

The disorder is often characterized by mutations in the GFAP gene, which lead to the abnormal accumulation of protein deposits called Rosenthal fibers within astrocytes. These deposits can interfere with the essential functions of supporting cells in the central nervous system and are a primary pathological hallmark of the condition.