Vanishing white matter disease: The first reported Chinese patient

被引：0

作者：

Wong, Sheila S. N. ^{[1
]}

Luk, David C. K. ^{[1
]}

Wong, Virginia C. N. ^{[2
]}

Scheper, Gert C. ^{[3
]}

van der Knaap, Marjo S. ^{[3
]}

机构：

[1] United Christian Hosp, Dept Paediat & Adolescent Med, Kowloon, Hong Kong, Peoples R China

[2] Univ Hong Kong, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[3] Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands

来源：

JOURNAL OF CHILD NEUROLOGY | 2008年 / 23卷 / 06期

关键词：

vanishing white matter disease; leukoencephalopathy; translation initiation factor EIF2B;

D O I：

10.1177/088307380314154

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Vanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease.

引用

页码：710 / 714

页数：5

共 17 条

[1] Leukoencephalopathy with vanishing white matter: An adult onset case [J].

Biancheri, R ;

Rossi, A ;

Di Rocco, M ;

Filocamo, M ;

Pronk, JC ;

van der Knaap, MS ;

Tortori-Donati, P .

NEUROLOGY, 2003, 61 (12) :1818-1819

[2] The effect of genotype on the natural history of eIF2B-related leukodystrophies [J].

Fogli, A ;

Schiffmann, R ;

Bertini, E ;

Ughetto, S ;

Combes, P ;

Eymard-Pierre, E ;

Kaneski, CR ;

Pineda, M ;

Troncoso, M ;

Uziel, G ;

Surtees, R ;

Pugin, D ;

Chaunu, MP ;

Rodriguez, D ;

Boespflug-Tanguy, O .

NEUROLOGY, 2004, 62 (09) :1509-1517

[3] A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation [J].

Fogli, A ;

Dionisi-Vici, C ;

Deodato, F ;

Bartuli, A ;

Boespflug-Tanguy, O ;

Bertini, E .

NEUROLOGY, 2002, 59 (12) :1966-1968

[4] DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY [J].

HANEFELD, F ;

HOLZBACH, U ;

KRUSE, B ;

WILICHOWSKI, E ;

CHRISTEN, HJ ;

FRAHM, J .

NEUROPEDIATRICS, 1993, 24 (05) :244-248

[5] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter [J].

Leegwater, PAJ ;

Vermeulen, G ;

Könst, AAM ;

Naidu, S ;

Mulders, J ;

Visser, A ;

Kersbergen, P ;

Mobach, D ;

Fonds, D ;

van Berkel, CGM ;

Lemmers, RJLF ;

Frants, RR ;

Oudejans, CBM ;

Schutgens, RBH ;

Pronk, JC ;

van der Knaap, MS .

NATURE GENETICS, 2001, 29 (04) :383-388

[6] The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27 [J].

Leegwater, PAJ ;

Könst, AAM ;

Kuyt, B ;

Sandkuijl, LA ;

Naidu, S ;

Oudejans, CBM ;

Schutgens, RBH ;

Pronk, JC ;

van der Knaap, MS .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (03) :728-734

[7] Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families [J].

Rosemberg, S ;

Leite, CD ;

Arita, FN ;

Kliemann, SE ;

Lacerda, MTC .

BRAIN & DEVELOPMENT, 2002, 24 (04) :250-256

[8] CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION [J].

SCHIFFMANN, R ;

MOLLER, JR ;

TRAPP, BD ;

SHIH, HHL ;

FARRER, RG ;

KATZ, DA ;

ALGER, JR ;

PARKER, CC ;

HAUER, PE ;

KANESKI, CR ;

HEISS, JD ;

KAYE, EM ;

QUARLES, RH ;

BRADY, RO ;

BARTON, NW .

ANNALS OF NEUROLOGY, 1994, 35 (03) :331-340

[9] A Japanese girl with leukoencephalopathy with vanishing white matter [J].

Sugiura, C ;

Miyata, H ;

Aka, A ;

Takashima, S ;

Ohama, E ;

Takeshita, K .

BRAIN & DEVELOPMENT, 2001, 23 (01) :58-61

[10] PROTON MAGNETIC-RESONANCE SPECTROSCOPIC IMAGING IN CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION [J].

TEDESCHI, G ;

SCHIFFMANN, R ;

BARTON, NW ;

SHIH, HHL ;

GOSPE, SM ;

BRADY, RO ;

ALGER, JR ;

DICHIRO, G .

NEUROLOGY, 1995, 45 (08) :1526-1532

← 1 2 →