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

[1] Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex [J].

Ambrosini, Elena ;

Serafini, Barbara ;

Lanciotti, Angela ;

Tosini, Fablo ;

Scialpi, Flavia ;

Psaila, Rossana ;

Raggi, Carla ;

Di Girolamo, Francesco ;

Petrucci, Tamara Corinna ;

Aloisi, Francesca .

MOLECULAR AND CELLULAR NEUROSCIENCE, 2008, 37 (03) :480-493

[2] Adult-onset Alexander disease [J].

Balbi, Pietro ;

Seri, Marco ;

Ceccherini, Isabella ;

Uggetti, Carla ;

Casale, Roberto ;

Fundaro, Cira ;

Caroli, Francesco ;

Santoro, Lucio .

JOURNAL OF NEUROLOGY, 2008, 255 (01) :24-30

[3]

Barkovich AJ, 2000, AM J NEURORADIOL, V21, P1099

[4] Biology of oligodendrocyte and myelin in the mammalian central nervous system [J].

Baumann, N ;

Pham-Dinh, D .

PHYSIOLOGICAL REVIEWS, 2001, 81 (02) :871-927

[5] Phenotypic characterization of hypomyelination and congenital cataract [J].

Biancheri, Roberta ;

Zara, Federico ;

Bruno, Claudio ;

Rossi, Andrea ;

Bordo, Laura ;

Gazzerro, Elisabetta ;

Sotgia, Federica ;

Pedemonte, Marina ;

Scapolan, Sara ;

Bado, Massimo ;

Uziel, Graziella ;

Bugiani, Marianna ;

Lamba, Laura Doria ;

Costa, Valeria ;

Schenone, Angelo ;

Rozemuller, Annemieke J. M. ;

Tortori-Donati, Paolo ;

Lisanti, Michael P. ;

van der Knaap, Marjo S. ;

Minetti, Carlo .

ANNALS OF NEUROLOGY, 2007, 62 (02) :121-127

[6]

BONNETDUPEYRON MN, 2008, HUM MUTAT IN PRESS

[7] MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet [J].

Boor, Ilja ;

Nagtegaal, Machiel ;

Kamphorst, Wouter ;

van der Valk, Paul ;

Pronk, Jan C. ;

van Horssen, Jack ;

Dinopoulos, Argirios ;

Bove, Kevin E. ;

Pascual-Castroviejo, Ignacio ;

Muntoni, Francesco ;

Estevez, Raul ;

Scheper, Gert C. ;

van der Knaap, Marjo S. .

ACTA NEUROPATHOLOGICA, 2007, 114 (04) :403-410

[8] Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease [J].

Brenner, M ;

Johnson, AB ;

Boespflug-Tanguy, O ;

Rodriguez, D ;

Goldman, JE ;

Messing, A .

NATURE GENETICS, 2001, 27 (01) :117-120

[9] GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy [J].

Bugiani, M. ;

Al Shahwan, S. ;

Lamantea, E. ;

Bizzi, A. ;

Bakhsh, E. ;

Moroni, I. ;

Balestrini, M. R. ;

Uziel, G. ;

Zeviani, M. .

NEUROLOGY, 2006, 67 (02) :273-279

[10] Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations [J].

Cailloux, F ;

Gauthier-Barichard, F ;

Mimault, C ;

Isabelle, V ;

Courtois, V ;

Giraud, G ;

Dastugue, B ;

Boespflug-Tanguy, O .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (11) :837-845

← 1 2 3 4 5 6 7 8 →