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LetterLetter

Mutation in ROBO3 Gene Recently Demonstrated in Patients with Horizontal Gaze Palsy with Progressive Scoliosis

John MacDonald
American Journal of Neuroradiology February 2007, 28 (2) 198;

The recent report in AJNR by dos Santos et al1 shows a case of MR imaging features in a child with horizontal gaze palsy with progressive scoliosis. This rare disorder has recently been shown by Jen et al2 to be secondary to defective brain stem crossing of descending corticospinal and somatosensory axons due to mutations in the ROBO3 gene that is necessary for axon crossing in the hindbrain.

References

  1. dos Santos AV, Matias S, Saraiva P, et al. MR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis. AJNR Am J Neuroradiol 2006;27:1382–83
  2. Jen JC, Chan W, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304:1509–13. Epub 2004 Apr 22
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