Alexander Disease: A Literature Review for Clinicians.

Abstract excerpt

Alexander disease (ALEXD; MIM 203450) is a rare leukodystrophy caused by dominant mutations in the GFAP (Glial Fibrillary Acidic Protein) gene, which encodes a key structural protein of astrocytes. First described in 1949, ALEXD is now recognized as a clinically heterogeneous disorder with a broad phenotypic spectrum spanning neonatal, infantile, juvenile, and adult-onset forms. Clinical manifestations vary...

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