Leucoencéphalopathie avec disparition de la substance blanche
Symptômes
Gestion de la maladie
Gènes analysés
Bibliographie
Lee, H. N., Koh, S. H., Lee, K. Y., et al. Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations. European journal of neurology. 2009 Mar;16(3):e42-3.
Leegwater, P. A., Vermeulen, G., Könst, A. A., et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nature genetics. 2001 Dec;29(4):383-8.
Ohtake, H., Shimohata, T., Terajima, K., et al. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology. 2004 May 11;62(9):1601-3.
van der Knaap, M. S., Leegwater, P. A., van Berkel, C. G., et al. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology. 2004 May 11;62(9):1598-600.
