Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics

Neurology

Volumn 62, Issue 6, 2004, Pages 847-848

  Noetzel, Michael J ^a  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; EDITORIAL; HUMAN; LEUKODYSTROPHY; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; PRIORITY JOURNAL;

EID: 1842614425     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.62.6.847     Document Type: Editorial

References (16)

1. Van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-334.
2. Leegwater PA, Yuan BQ, van der Steen J, et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001;68:831-838.
3. Gorospe JR, Singhal BS, Kainu T, et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004;62:878-882.
4. Schmitt A, Gofferje V, Weber M, et al. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. Glia 2003;44:283-295.
5. Alexander WS. Progressive fibrinoid degeneration of fibrillary astrocytes with mental retardation in a hydrocephalic infant. Brain 1949;72: 373-381.
6. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117-120.
7. Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci 2002;20:259-268.
8. Stumpf E, Masson H, Duquette A, et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003;60:1307-1312.
9. Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993;24:244-248.
10. Schiffmann R, Moller JR, Trapp BD, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994;35: 331-340.
11. van der Knaap MS, Barth PG, Gabreels FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
12. Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
13. Van Der Knaap MS, Van Berkel CG, Herms J, et al. eIF2B-Related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207.
14. Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002;52:506-510.
15. van der Knaap MS, Kamphorst W, Barth PG, et al. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998;51:540-547.
16. Fogli A, Rodriguez D, Eymard-Pierre E, et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003;72: 1544-1550.