Leukoencephalopathy with vanishing white matter

Definition:

Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.

References:

[1]. Jan C Pronk, et al. Vanishing white matter disease: a review with focus on its genetics. Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. [Content Brief]

[2]. Marianna Bugiani, et al. Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. [Content Brief]

[3]. Noel C Wortham, et al. Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. BMC Med Genet. 2015 Aug 19;16:64. [Content Brief]

[4]. P A Leegwater, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet. 2001 Dec;29(4):383-8. [Content Brief]

[5]. Takashi Matsukawa, et al. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenetics. 2011 Aug;12(3):259-61. [Content Brief]

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