A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

被引：53
|
作者：
Fogli, A
Dionisi-Vici, C
Deodato, F
Bartuli, A
Boespflug-Tanguy, O
Bertini, E
机构：
[1] Fac Med, INSERM, UMR 384, F-63001 Clermont Ferrand, France
[2] Fac Med, Federat Genet Humaine Auvergne, F-63001 Clermont Ferrand, France
[3] Bambino Gesu Pediat Hosp, Div Metab Disorders, Mol Med Unit, Rome, Italy
来源：
NEUROLOGY | 2002年 / 59卷 / 12期
关键词：
D O I：
10.1212/01.WNL.0000041666.76863.47
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：1966 / 1968
页数：3
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