Article
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Folia neuropathologica - 1 Jan 2006
Mierzewska Hanna, van der Knaap Marjo S, Scheper Gert C, Jurkiewicz Elzbieta, Schmidt-Sidor Bogna, Szymańska Krystyna
Abstract excerpt
Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B. Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin...
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