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

相关论文

共 10 条

[1] Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27 [J].

Black, DN ;

Harris, R ;

Schiffmann, R ;

Wong, K .

NEUROLOGY, 2002, 58 (01) :161-162

[2] Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus [J].

Fogli, A ;

Wong, KD ;

Eymard-Pierre, E ;

Wenger, J ;

Bouffard, JP ;

Goldin, E ;

Black, DN ;

Boespflug-Tanguy, O ;

Schiffmann, R .

ANNALS OF NEUROLOGY, 2002, 52 (04) :506-510

[3] Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27 [J].

Francalanci, P ;

Eymard-Pierre, E ;

Dionisi-Vici, C ;

Boldrini, R ;

Piemonte, F ;

Virgili, R ;

Fariello, G ;

Bosman, C ;

Santorelli, FM ;

Boespflug-Tanguy, O ;

Bertini, E .

NEUROLOGY, 2001, 57 (02) :265-270

[4] Identification of domains and residues within the ε subunit of eukaryotic translation initiation factor 2B (eIF2Bε) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation [J].

Gomez, E ;

Pavitt, GD .

MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (11) :3965-3976

[5] Intracellular functions of N-linked glycans [J].

Helenius, A ;

Aebi, M .

SCIENCE, 2001, 291 (5512) :2364-2369

[6]

Proud C G, 2001, Prog Mol Subcell Biol, V26, P95

[7] Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome:: neuropathological and biochemical study of two cases [J].

Rodriguez, D ;

Gelot, A ;

della Gaspera, B ;

Robain, O ;

Ponsot, G ;

Sarliève, LL ;

Ghandour, S ;

Pompidou, A ;

Dautigny, A ;

Aubourg, P ;

Pham-Dinh, D .

ACTA NEUROPATHOLOGICA, 1999, 97 (05) :469-480

[8] Protection of myelin basic protein immunized mice from free-radical mediated inflammatory cell invasion of the central nervous system by the natural peroxynitrite scavenger uric acid [J].

Spitsin, SV ;

Scott, GS ;

Kean, RB ;

Mikheeva, T ;

Hooper, DC .

NEUROSCIENCE LETTERS, 2000, 292 (02) :137-141

[9] Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter [J].

van der Knaap, MS ;

Leegwater, PAJ ;

Könst, AAM ;

Visser, A ;

Naidu, S ;

Oudejans, CBM ;

Schutgens, RBH ;

Pronk, JC .

ANNALS OF NEUROLOGY, 2002, 51 (02) :264-270

[10] Increased cerebrospinal fluid glycine:: A biochemical marker for a leukoencephalopathy with vanishing white matter [J].

van der Knaap, MS ;

Wevers, RA ;

Kure, S ;

Gabreëls, FJM ;

Verhoeven, NM ;

van Raaij-Selten, B ;

Jaeken, J .

JOURNAL OF CHILD NEUROLOGY, 1999, 14 (11) :728-731