Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Ricardo H. Roda, Edmond J. FitzGibbon, Houda Boucekkine, Alice B. Schindler, Craig Blackstone

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


The MAG gene encodes myelin-associated glycoprotein (MAG), an abundant protein involved in axon–glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus–Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Here, we report two brothers from a nonconsanguineous family afflicted with progressive cognitive impairment, neuropathy, ataxia, nystagmus, and gait disorder. Exome sequencing revealed the homozygous missense mutation p.Arg118His in MAG. This Arg118 residue in immunoglobulin domain 1 is critical for sialic acid binding, providing a compelling mechanistic basis for disease pathogenesis.

Original languageEnglish (US)
Pages (from-to)650-654
Number of pages5
JournalAnnals of Clinical and Translational Neurology
Issue number8
StatePublished - Aug 1 2016

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Neurology


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