Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.
case_report · Level V
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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.
Medical subject headings
- Alexander Disease
- DNA, Mitochondrial
- Glial Fibrillary Acidic Protein