Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.
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.
Nobuhara
Y
Y
Department of Neurology and Gerontology, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Nakahara
K
K
Higuchi
I
I
Yoshida
T
T
Fushiki
S
S
Osame
M
M
Arimura
K
K
Nakagawa
M
M
D000328:Adult; D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002490:Central Nervous System / Q000473:pathology; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005091:Exons; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000473:pathology; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D017354:Point Mutation; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D005904:Glial Fibrillary Acidic Protein