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Updated: Oct 1, 2026

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
Published on: November 28, 2025
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene
Yukio Sawaishi1, Tamami Yano, Iwao Takaku
1Department of Pediatrics, Akita University School of Medicine, Japan. sawaishi@ped.med.akita-u.ac.jp
Abstract:
Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.
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