Dominant form of vanishing white matter-like leukoencephalopathy

• Published in: Annals of neurology Vol. 58; no. 4; pp. 634 - 639
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-10-2005; Willey-Liss
• Subjects: Adult; Ataxia - complications; Ataxia - genetics; Ataxia - pathology; Biological and medical sciences; Dementia, Vascular - complications; Dementia, Vascular - genetics; Dementia, Vascular - pathology; Eukaryotic Initiation Factor-2B - genetics; Female; Hereditary Central Nervous System Demyelinating Diseases - complications; Hereditary Central Nervous System Demyelinating Diseases - genetics; Hereditary Central Nervous System Demyelinating Diseases - pathology; Human viral diseases; Humans; Infectious diseases; Magnetic Resonance Imaging - methods; Male; Medical sciences; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Mutation; Neurology; Viral diseases; Viral diseases of the lymphoid tissue and the blood. Aids; White matter; Nervous system diseases; Leucoencephalopathy
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.20573

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 have been identified. We report in an affected man and his mother an adult‐onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease–like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes. Ann Neurol 2005