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NEUROLOGY 2007;68:1305-1307
© 2007 American Academy of Neurology

Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation

M. P. Gorman, MD, M. R. Golomb, MD, MSc, L. E. Walsh, MD, G. M. Hobson, PhD, J. Y. Garbern, MD, PhD, R. P. Kinkel, MD, B. T. Darras, MD, D. K. Urion, MD and Y. Z. Eksioglu, MD, PhD

From the Department of Neurology, Children’s Hospital, Boston, MA (M.P.G., B.T.D., D.K.U., Y.Z.E.); Department of Neurology, Division of Pediatric Neurology (M.R.G., L.E.W.) and Department of Medical Genetics (L.E.W.), Indiana University School of Medicine, Indianapolis, IN; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE (G.M.H.); Department of Neurology, Wayne State University School of Medicine, Detroit, MI (J.Y.G); and Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA (R.P.K.).

Address correspondence and reprint requests to Dr. Yaman Z. Eksioglu, Department of Neurology, Children’s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115; e-mail: yaman.eksioglu{at}childrens.harvard.edu

A 10-year-old boy developed corticosteroid-responsive relapsing neurologic signs, including nystagmus and ataxia. MRI revealed multifocal T2 white matter hyperintensities; several were gadolinium-enhancing. CSF contained oligoclonal bands. Although the patient met criteria for multiple sclerosis (MS), the proteolipid protein-1 gene (PLP1) contained a mutation in exon 3B (c.409C>T), predicting a tryptophan-for-arginine substitution. This case raises questions about the role of inflammation in PLP1-related disorders and, conversely, PLP1 mutations in MS.

M.P.G. is supported by a National Multiple Sclerosis Society Clinical Fellowship (sponsored by the Central New England Chapter). M.R.G. is supported by NIH National Institute of Neurological Disorders and Stroke grant K23 NS8024 and Clarian Values Fund Grant #VFR-171. G.M.H. is supported by the Nemours Foundation, the NIH (P20 RR-020173-01), and the Kylan Hunter Foundation. J.Y.G. is supported by the NIH (1RO1NS043783) and National Multiple Sclerosis Society (RG3204).

Disclosure: Dr. Kinkel has received funding support from Biogen, Idec, the makers of intramuscular interferon beta-1a.

Received November 21, 2005. Accepted in final form December 13, 2006.


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