Related Experiment Video
Updated: Aug 21, 2026

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
Published on: November 28, 2025
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality
Y Nobuhara1, K Nakahara, I Higuchi
1Department of Neurology and Gerontology, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Abstract:
The authors report a 29-year-old woman with marked atrophy of the cerebellum, medulla oblongata, and spinal cord, dementia, diffuse white matter abnormality on MRI, ragged-red fibers, and R88C mutation in the human glial fibrillary acidic protein (GFAP). Mitochondria DNA (mtDNA) analysis showed a rare polymorphism at A8291G. This mtDNA polymorphism, which has been associated with limb-girdle type mitochondrial myopathy, may modify the clinical symptoms of this juvenile form of Alexander disease with GFAP mutation.
Related Concept Videos
Inborn Errors of Metabolism
Lysosomal Hydrolases
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...

