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NEUROLOGY 2006;67:353-355
© 2006 American Academy of Neurology
Brief Communications

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

A. Federico, MD, O. Scali, BSc, M. L. Stromillo, MD, C. Di Perri, MD, S. Bianchi, PhD, F. Sicurelli, PhD, N. De Stefano, PhD, A. Malandrini, MD and M. T. Dotti, MD

From the Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Italy.

Address correspondence and reprint requests to Dr. A. Federico, Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy; e-mail: federico{at}unisi.it

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the July 25 issue to find the title link for this article.

Supported in part by a grant from Regione Toscana to A.F.

Disclosure: The authors report no conflicts of interest.

Received December 23, 2005. Accepted in final form March 22, 2006.




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