Genes involved in leukodystrophies: A glance at glial functions

被引：40

作者：

Boespflug-Tanguy, Odile ^{[1
]}

Labauge, Pierre ^{[1
]}

Fogli, Anne ^{[1
]}

Vaurs-Barriere, Catherine ^{[1
]}

机构：

[1] CNRS 6247, INSERM, U931, GRED,Fac Med, F-63000 Clermont Ferrand, France

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2008年 / 8卷 / 03期

关键词：

D O I：

10.1007/s11910-008-0034-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Leukodystrophies are a group of orphan genetic diseases that primarily affect the white matter (WM) of the brain. The diagnosis and classification of these pathologies have been improved in the past decade thanks to the development of brain MRI, which allows the diagnosis of WM abnormalities in vivo and the continuous follow-up of patients. This article reviews recent advances made in leukodystrophy research by identifying causative genes. It focuses particularly on the genes involved in the hypomyelinated and vacuolating leukodystrophies, which provide new insights into the understanding of myelin formation and WM homeostasis.

引用

页码：217 / 229

页数：13

共 72 条

[71] Ataxia, delayed dentition and hypornyelination: A novel Leukoencephalopathy [J].

Wolf, N. I. ;

Harting, I. ;

Innes, A. M. ;

Patzer, S. ;

Zeitler, P. ;

Schneider, A. ;

Wolff, A. ;

Baier, K. ;

Zschocke, J. ;

Ebinger, F. ;

Boltshauser, E. ;

Rating, D. .

NEUROPEDIATRICS, 2007, 38 (02) :64-70

[72] Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract [J].

Zara, Federico ;

Biancheri, Roberta ;

Bruno, Claudio ;

Bordo, Laura ;

Assereto, Stefania ;

Gazzerro, Elisabetta ;

Sotgia, Federica ;

Wang, Xiao Bo ;

Gianotti, Stefania ;

Stringara, Silvia ;

Pedemonte, Marina ;

Uziel, Graziella ;

Rossi, Andrea ;

Schenone, Angelo ;

Tortori-Donati, Paolo ;

van der Knaap, Marjo S. ;

Lisanti, Michael P. ;

Minetti, Carlo .

NATURE GENETICS, 2006, 38 (10) :1111-1113

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