A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5'-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition.
Fogli
A
A
INSERM UMR 384 et Fédération de Génétique Humaine Auvergne, Faculté de Médecine, Clermont-Ferrand, France.
Dionisi-Vici
C
C
Deodato
F
F
Bartuli
A
A
Boespflug-Tanguy
O
O
Bertini
E
E
D001259:Ataxia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D001479:Basal Ganglia / Q000473:pathology; D004912:Erythrocytes / Q000378:metabolism; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D017809:Fatal Outcome; D006160:Guanosine Triphosphate / Q000097:blood; D006801:Humans; D007198:Indians, North American; D007223:Infant; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009836:Oligodendroglia / Q000473:pathology; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D013788:Thalamus / Q000473:pathology
D020717:Eukaryotic Initiation Factor-2B; D006160:Guanosine Triphosphate