1. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
- Author
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Gorman MP, Golomb MR, Walsh LE, Hobson GM, Garbern JY, Kinkel RP, Darras BT, Urion DK, and Eksioglu YZ
- Subjects
- Amino Acid Substitution genetics, Central Nervous System metabolism, Central Nervous System pathology, Central Nervous System physiopathology, Cerebellar Diseases genetics, Cerebellar Diseases immunology, Cerebellar Diseases physiopathology, Child, DNA Mutational Analysis, Disease Progression, Exons genetics, Humans, Inflammation genetics, Inflammation immunology, Inflammation physiopathology, Interferon beta-1a, Interferon-beta therapeutic use, Magnetic Resonance Imaging, Male, Methylprednisolone therapeutic use, Multiple Sclerosis, Relapsing-Remitting immunology, Neuroprotective Agents therapeutic use, Oligoclonal Bands cerebrospinal fluid, Remission Induction, Treatment Outcome, Genetic Predisposition to Disease genetics, Membrane Proteins genetics, Multiple Sclerosis, Relapsing-Remitting drug therapy, Multiple Sclerosis, Relapsing-Remitting genetics, Mutation genetics, Myelin Proteolipid Protein genetics, Steroids therapeutic use
- 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.
- Published
- 2007
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