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Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

From the Department of Neurology (N.L.S., D.W.S., N.H., J.R.A., R.W.B., J.C.J.), Division of Brain Mapping (N.L.S., A.E.D., J.R.A.), Laboratory of Neuro Imaging (D.W.S., N.H.), Department of Radiology (G.S., N.S., J.R.A.), Department of Ophthalmology (J.L.D.), and Neuroscience (N.L.S., J.L.D.) and Bioengineering (J.L.D.) Interdepartmental Programs, UCLA, Los Angeles, CA; Institute of Clinical Neuroanatomy, JW Goethe-University, Frankfurt/Main, Germany (U.R., T.D.); and Genetics, Genomics, and Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA (E.C.E.).

Address correspondence and reprint requests to Dr. Nancy L. Sicotte, Neuroscience Research Building, Rm. 475C, 635 Charles Young Drive South, Los Angeles, CA 90095; e-mail: nsicotte{at}ucla.edu

Horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging in a patient with HGGPS revealed the absence of major pontine crossing fiber tracts and no decussation of the superior cerebellar peduncles. Mutations in the ROBO3 gene lead to a widespread lack of crossing fibers throughout the brainstem.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 8 issue to find the title link for this article.

This study was supported by the National Multiple Sclerosis Society JF2107 (N.L.S.), the National Eye Institute R01 EY15311 (J.C.J., N.L.S.) and R01 EY13583 (E.C.E.), and the Deutsche Forschungsgemeinschaft (RU 1215/1-1).

Disclosure: The authors report no conflicts of interest.

Received January 3, 2006. Accepted in final form March 31, 2006.

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