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

作者：Roda Ricardo H^*; FitzGibbon Edmond J; Boucekkine Houda; Schindler Alice B; Blackstone Craig

来源：Annals of Clinical and Translational Neurology, 2016, 3(8): 650-654.

DOI：10.1002/acn3.329

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.

• 出版日期2016-8
• 单位NIH