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

页码：1966 / 1968

页数：3

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