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

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

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26 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1305-1307
Number of pages3
JournalNeurology
Volume68
Issue number16
DOIs
StatePublished - Apr 1 2007

ASJC Scopus subject areas

  • Clinical Neurology

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    Gorman, M. P., Golomb, M. R., Walsh, L. E., Hobson, G. M., Garbern, J. Y., Kinkel, R. P., Darras, B. T., Urion, D. K., & Eksioglu, Y. Z. (2007). Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology, 68(16), 1305-1307. https://doi.org/10.1212/01.wnl.0000259522.49388.53