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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution / genetics
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Central Nervous System / metabolism
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Central Nervous System / pathology
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Central Nervous System / physiopathology
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Cerebellar Diseases / genetics
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Cerebellar Diseases / immunology
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Cerebellar Diseases / physiopathology
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Child
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DNA Mutational Analysis
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Disease Progression
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Exons / genetics
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Genetic Predisposition to Disease / genetics*
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Humans
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Inflammation / genetics
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Inflammation / immunology
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Inflammation / physiopathology
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Interferon beta-1a
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Interferon-beta / therapeutic use
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Magnetic Resonance Imaging
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Male
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Membrane Proteins / genetics*
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Methylprednisolone / therapeutic use
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Multiple Sclerosis, Relapsing-Remitting / drug therapy*
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Multiple Sclerosis, Relapsing-Remitting / genetics*
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Multiple Sclerosis, Relapsing-Remitting / immunology
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Mutation / genetics*
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Myelin Proteolipid Protein / genetics*
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Neuroprotective Agents / therapeutic use
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Oligoclonal Bands / cerebrospinal fluid
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Remission Induction
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Steroids / therapeutic use*
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Treatment Outcome
Substances
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Membrane Proteins
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Myelin Proteolipid Protein
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Neuroprotective Agents
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Oligoclonal Bands
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PLP1 protein, human
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Steroids
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Interferon-beta
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Methylprednisolone
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Interferon beta-1a