An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a 6-year-old patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP, previously only described in the infantile form. These results suggest the need for further studies of the genotype-phenotype correlation.
Asahina
Naoko
N
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan.
Okamoto
Takayuki
T
Sudo
Akira
A
Kanazawa
Naomi
N
Tsujino
Seiichi
S
Saitoh
Shinji
S
D017668:Age of Onset; D038261:Alexander Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation
D005904:Glial Fibrillary Acidic Protein; D006639:Histidine; D001120:Arginine