伴有GFAP突变和线粒体畸形的幼稚型Alexander病

摘要

cqvip: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 aci dic 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.