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

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

Research output: Contribution to journalArticle

24 Citations (Scopus)

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

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Proteolipids
Nervous System
Steroids
Recurrence
Mutation
Multiple Sclerosis
Oligoclonal Bands
Proteins
Gadolinium
Ataxia
Neurologic Manifestations
Tryptophan
Arginine
Exons
Adrenal Cortex Hormones
Inflammation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. / Gorman, M. P.; Golomb, Meredith; Walsh, Larry; Hobson, G. M.; Garbern, J. Y.; Kinkel, R. P.; Darras, B. T.; Urion, D. K.; Eksioglu, Y. Z.

In: Neurology, Vol. 68, No. 16, 04.2007, p. 1305-1307.

Research output: Contribution to journalArticle

Gorman, MP, Golomb, M, Walsh, L, Hobson, GM, Garbern, JY, Kinkel, RP, Darras, BT, Urion, DK & Eksioglu, YZ 2007, 'Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation', Neurology, vol. 68, no. 16, pp. 1305-1307. https://doi.org/10.1212/01.wnl.0000259522.49388.53
Gorman, M. P. ; Golomb, Meredith ; Walsh, Larry ; Hobson, G. M. ; Garbern, J. Y. ; Kinkel, R. P. ; Darras, B. T. ; Urion, D. K. ; Eksioglu, Y. Z. / Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. In: Neurology. 2007 ; Vol. 68, No. 16. pp. 1305-1307.
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