Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
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.
Gorman
M P
MP
Department of Neurology, Children's Hospital, Boston, MA 02115, USA.
Golomb
M R
MR
Walsh
L E
LE
Hobson
G M
GM
Garbern
J Y
JY
Kinkel
R P
RP
Darras
B T
BT
Urion
D K
DK
Eksioglu
Y Z
YZ
D019943:Amino Acid Substitution / Q000235:genetics; D002490:Central Nervous System / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D000068556:Interferon beta-1a; D016899:Interferon-beta / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008775:Methylprednisolone / Q000627:therapeutic use; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000188:drug therapy* / Q000235:genetics* / Q000276:immunology; D009154:Mutation / Q000235:genetics*; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D018696:Neuroprotective Agents / Q000627:therapeutic use; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid; D012074:Remission Induction; D013256:Steroids / Q000627:therapeutic use*; D016896:Treatment Outcome
D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein; D018696:Neuroprotective Agents; D043025:Oligoclonal Bands; C472930:PLP1 protein, human; D013256:Steroids; D016899:Interferon-beta; D008775:Methylprednisolone; D000068556:Interferon beta-1a