Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies

Neurology

Volumn 62, Issue 9, 2004, Pages 1464-1465

  Kaye, Edward M ^a,b   Moser, Hugo ^c  

^a GENZYME CORPORATION   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; EDITORIAL; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; WHITE MATTER;

EID: 2342608441     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.62.9.1464     Document Type: Editorial

References (15)

1. van der Knaap MS, Breiter SN, Naidu S, Hart AAM, Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999;213:121-133.
2. van der Knaap MS, Barth PG, Gabreels FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
3. Schiffmann R, Moller JR, Trapp BD, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994;35:331-340.
4. 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.
5. van der Knaap MS, Kamphorst W, Barth PG, et al. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998;51:540-547.
6. van der Knaap MS, Leegwater PAJ, Könst AAM, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51:264-270.
7. Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002;52:506-551.
8. Fogli A, Rodriguez D, Eymard-Pierre E, et al. Ovarian failure related to eukaryatic initiation factor 2B mutations. Am J Hum Genet 2003;72: 1544-1550.
9. van der Knaap MS, van Berkel CGM, Herms J, et al. eIF2B related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207.
10. Fogli A, Schiffmann R, Bertini E, et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004;62: 1509-1517.
11. van der Knaap MS, Leegwater AJ, van Berkel GM, et al. Arg113His mutation in eIF2B-epsilon as cause of leukoencephalopathy in adults. Neurology 2004;62:1598-1600.
12. Ohtake H, Shimohata T, Terajima K, et al. Adult-onset leukoencephalopathy with vanishing white matter associated with a missense mutation in EIF2B5. Neurology 2004;62:1601-1603.
13. Wolf NI, Willemsen MAAP, Engelke UF, et al. Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology 2004;62:1503-1508.
14. Hudson LD. Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill, 2001:5789-5798.
15. Martin E, Capone A, Schneider J, Hennig J, Thiel T. Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? Ann Neurol 2001;49:518-521.