Selected research related to vanishing white matter disease:

Jurkiewicz E, Mierzewska H, Bekiesinska-Figatowska M, Pakula-Kosciesza I, Kmiec T, Scheper G, van der Knaap MS, Pronicka E.
MRI of a family with leukoencephalypathy with vanishing white matter.
Pediatr Radiol. 2005 May 24; [Epub ahead of print]

Sijens PE, Boon M, Meiners LC, Brouwer OF, Oudkerk M.
1H chemical shift imaging, MRI, and diffusion-weighted imaging in vanishing white matter disease.
Eur Radiol. 2005 Apr 27; [Epub ahead of print] No abstract available.

Vermeulen G, Seidl R, Mercimek-Mahmutoglu S, Rotteveel JJ, Scheper GC, van der Knaap MS.
Fright is a provoking factor in vanishing white matter disease.
Ann Neurol. 2005 Apr;57(4):560-3.

Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschutter A, Gartner J.
Identification of ten novel mutations in patients with eIF2B-related disorders.
Hum Mutat. 2005 Apr;25(4):411.

Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Proschel M, Noble M, Torres C, Proschel C.
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.
Nat Med. 2005 Mar;11(3):277-83. Epub 2005 Feb 20.

Wilson CJ, Pronk JC, Van der Knaap MS.
Vanishing white matter disease in a child presenting with ataxia.
J Paediatr Child Health. 2005 Jan-Feb;41(1-2):65-7.

Oliveira HA, Machado MG, Jesus AC, Oliveira EF, Oliveira AM.
[Megalencephalic leukoencephalopathy with vanishing white matter and cystic formation]
Arq Neuropsiquiatr. 2004 Dec;62(4):1058-62. Epub 2004 Dec 15. Portuguese.

Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P.
Genetic disorders affecting white matter in the pediatric age.
Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129(1):85-93. Review.

Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O.
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Eur J Hum Genet. 2004 Jul;12(7):561-6.

Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM.
The life and death of oligodendrocytes in vanishing white matter disease.
J Neuropathol Exp Neurol. 2004 Jun;63(6):618-30.

Ohtake H, Shimohata T, Terajima K, Kimura T, Jo R, Kaseda R, Iizuka O, Takano M, Akaiwa Y, Goto H, Kobayashi H, Sugai T, Muratake T, Hosoki T, Shioiri T, Okamoto K, Onodera O, Tanaka K, Someya T, Nakada T, Tsuji S.
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
Neurology. 2004 May 11;62(9):1601-3.

van der Knaap MS, Leegwater PA, van Berkel CG, Brenner C, Storey E, Di Rocco M, Salvi F, Pronk JC.
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
Neurology. 2004 May 11;62(9):1598-600.

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.
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Neurology. 2004 May 11;62(9):1509-17.

Schiffmann R, van der Knaap MS.
The latest on leukodystrophies.
Curr Opin Neurol. 2004 Apr;17(2):187-92. Review.

Li W, Wang X, Van Der Knaap MS, Proud CG.
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
Mol Cell Biol. 2004 Apr;24(8):3295-306.

Boesen T, Mohammad SS, Pavitt GD, Andersen GR.
Structure of the catalytic fragment of translation initiation factor 2B and identification of a critically important catalytic residue.
J Biol Chem. 2004 Mar 12;279(11):10584-92. Epub 2003 Dec 17.

Sinzig JK, Seitz A, Brockmann K, Konig S.
Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy.
J Neuroradiol. 2004 Mar;31(2):142-4.

Richardson JP, Mohammad SS, Pavitt GD.
Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Mol Cell Biol. 2004 Mar;24(6):2352-63.

Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, Guerrini L, Mascalchi M, Pronk JC, van der Knaap MS, Filippi M.
Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.
Neurology. 2004 Jan 27;62(2):323-6.

Abbott CM, Proud CG.
Translation factors: in sickness and in health.
Trends Biochem Sci. 2004 Jan;29(1):25-31. Review.

Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, van der Knaap MS, Tortori-Donati P.
Leukoencephalopathy with vanishing white matter:: an adult onset case.
Neurology. 2003 Dec 23;61(12):1818-9. No abstract available. Erratum in: Neurology. 2004 Apr 13;62(7):1242.

van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC.
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
Am J Hum Genet. 2003 Nov;73(5):1199-207. Epub 2003 Oct 17.

Leegwater PA, Pronk JC, van der Knaap MS.
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
J Child Neurol. 2003 Sep;18(9):639-45. Review.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E.
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
Neurology. 2002 Dec 24;59(12):1966-8.

Marsman JW.
[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter]
Ned Tijdschr Geneeskd. 2002 Nov 23;146(47):2266; author reply 2266. Dutch. No abstract available.

Oda M, Matsuya S, Fukuoka K, Hosaka A, Suzuki Y, Hayashi M.
[An infant autopsy case of severe multicystic leukoencephalopathy]
No To Hattatsu. 2002 Nov;34(6):511-6. Review. Japanese.

Pronk JC, Leegwater PA, van der Knaap MS.
[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter]
Ned Tijdschr Geneeskd. 2002 Oct 12;146(41):1933-6. Dutch.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R.
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Ann Neurol. 2002 Oct;52(4):506-10.

Rosemberg S, Leite Cda C, Arita FN, Kliemann SE, Lacerda MT.
Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families.
Brain Dev. 2002 Jun;24(4):250-6.

Boltshauser E, Barth PG, Troost D, Martin E, Stallmach T.
"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.
Neuropediatrics. 2002 Apr;33(2):57-62.

van der Knaap MS, Leegwater PA, Konst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC.
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
Ann Neurol. 2002 Feb;51(2):264-70.

Barkhof F, Scheltens P.
Imaging of white matter lesions.
Cerebrovasc Dis. 2002;13 Suppl 2:21-30. Review.

de Santos-Moreno MT, Campos-Castello J.
[Non specific leukodystrophy. A new case of vacuolizing leukoencephalopathy with megalencephaly]
Rev Neurol. 2002 Jan 1-15;34(1):19-27. Review. Spanish.

Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Nat Genet. 2001 Dec;29(4):383-8.

Prass K, Bruck W, Schroder NW, Bender A, Prass M, Wolf T, Van der Knaap MS, Zschenderlein R.
Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia.
Ann Neurol. 2001 Nov;50(5):665-8.

Bruck W, Herms J, Brockmann K, Schulz-Schaeffer W, Hanefeld F.
Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development.
Ann Neurol. 2001 Oct;50(4):532-6.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E.
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.
Neurology. 2001 Jul 24;57(2):265-70.

Sugiura C, Miyata H, Oka A, Takashima S, Ohama E, Takeshita K.
A Japanese girl with leukoencephalopathy with vanishing white matter.
Brain Dev. 2001 Mar;23(1):58-61.

Gomes AL, Vieira JP, Saldanha J.
Non-progressive leukoencephalopathy with bilateral temporal cysts.
Eur J Paediatr Neurol. 2001;5(3):121-5.

Senol U, Haspolat S, Karaali K, Luleci E.
MR imaging of vanishing white matter.
AJR Am J Roentgenol. 2000 Sep;175(3):826-8. No abstract available.

Topcu M, Saatci I, Apak RA, Soylemezoglu F.
A case of leukoencephalopathy with vanishing white matter.
Neuropediatrics. 2000 Apr;31(2):100-3.

van der Knaap MS, Wevers RA, Kure S, Gabreels FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J.
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.
J Child Neurol. 1999 Nov;14(11):728-31.

Rodriquez D, Gelot A.
Phenotypic variation in leukoencephalopathy with vanishing white matter.
Neurology. 1999 Oct 12;53(6):1373-4. No abstract available.

Leegwater PA, Konst AA, Kuyt B, Sandkuijl LA, Naidu S, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.
Am J Hum Genet. 1999 Sep;65(3):728-34.

van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J.
Phenotypic variation in leukoencephalopathy with vanishing white matter.
Neurology. 1998 Aug;51(2):540-7.

van der Knaap MS, Barth PG, Gabreels FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J.
A new leukoencephalopathy with vanishing white matter.
Neurology. 1997 Apr;48(4):845-55.