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Neurology 2002;59:1966-1968
© 2002 American Academy of Neurology
Brief Communications

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

A. Fogli, PhD, C. Dionisi-Vici, MD, F. Deodato, MD, A. Bartuli, MD, O. Boespflug-Tanguy, MD PhD and E. Bertini, MD

From INSERM UMR 384 et Fédération de Génétique Humaine Auvergne (Drs. Fogli and Boespflug-Tanguy), Faculté de Médecine, Clermont-Ferrand, France; and the Unit of Molecular Medicine (Dr. Bertini) and Division of Metabolic Disorders (Drs. Dionisi-Vici, Deodato, and Bartuli), Bambino Gesu’ Children’s Hospital, Rome, Italy.

Address correspondence and reprint requests to Dr. Odile Boespflug-Tanguy, INSERM UMR 384, Faculté de Médecine 28, place Henri Dunant BP 38, 63001 Clermont-Ferrand cedex, France; e-mail: Odile.Boespflug{at}inserm.u-clermont1.fr

Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5'-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition.




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