Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 muta

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Neurology. 2006 Jul 25;67(2):353-5.

Peripheral neuropathy in vanishing white matter disease with a novel

EIF2B5 mutation.

Federico A, Scali O, Stromillo ML, Di Perri C, Bianchi S, Sicurelli F,

De Stefano N, Malandrini A, Dotti MT.

Department of Neurological and Behavioural Sciences, Medical School,

University of Siena, Siena, Italy.

The authors describe an infant with vanishing white matter disease with

demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene

showed that the patient was a double heterozygote, with novel missense

mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement

of an arginine residue with glutamine.