Article
Dominant form of vanishing white matter-like leukoencephalopathy.
Annals of neurology - 1 Oct 2005
Labauge Pierre, Fogli Anne, Castelnovo Giovanni, Le Bayon Alice, Horzinski Laetitia, Nicoli François, Cozzone Patrick, Pagès Michel, Briere Caroline, Marty-Double Christiane, Delhaume Olivier, Gelot Antoinette, Boespflug-Tanguy Odile, Rodriguez Diana
Abstract excerpt
Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B...
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