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.
Department of Neurology and Gerontology, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Y
Y
Nobuhara
K
K
Nakahara
I
I
Higuchi
T
T
Yoshida
S
S
Fushiki
M
M
Osame
K
K
Arimura
M
M
Nakagawa
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