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NEUROLOGY 2004;62:1598-1600
© 2004 American Academy of Neurology
Brief Communications

Arg113His mutation in eIF2B{epsilon} as cause of leukoencephalopathy in adults

M. S. van der Knaap, MD PhD, P. A.J. Leegwater, PhD, C. G.M. van Berkel, C. Brenner, MD, E. Storey, FRACP PhD, M. Di Rocco, MD, F. Salvi, MD and J. C. Pronk, PhD

From the Departments of Child Neurology (Drs. van der Knaap and Leegwater) and Clinical and Human Genetics (Dr. Pronk, C.G.M. van Berkel), Free University Medical Center, Amsterdam, The Netherlands; Department of Radiology (Dr. Brenner), The Sarah Network of Hospitals for the Locomotor System, Brasília, Brazil; Department of Medicine (Dr. Storey), Monash University, Alfred Hospital Campus, Victoria, Australia; Department of Pediatrics (Dr. Di Rocco), G. Gaslini Institute, Genova, Italy; and Department of Neurological Sciences (Dr. Salvi), Bellaria Hospital, Bologna, Italy.

Address correspondence and reprint requests to Dr. Marjo S. van der Knaap, Department of Child Neurology, Free University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands; e-mail: ms.vanderknaap{at}vumc.nl

Vanishing white matter is a leukoencephalopathy that usually affects young children. Five genes were found recently for this disease, allowing a DNA-based diagnosis. The authors describe six patients homozygous for the Arg113His mutation in eIF2B{epsilon}. Only one had a childhood onset; four had a later onset and a protracted disease course; one adult still has no symptoms. Our data suggest that the Arg113His mutation is particularly mild and should be considered in the differential diagnosis of adult diffuse leukoencephalopathies, independent of whether there are associated clinical signs, an episodic course, or MRI shows white matter rarefaction/cystic degeneration.

Received October 13, 2003. Accepted in final form February 2, 2004.

See also pages 1464, 1503, 1509, and 1601




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