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

Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE, Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC

Department of Neurology, Division of Brain Mapping, Interdepartmental Programs, UCLA, USA. nsicotte@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.

Published 8 August 2006 in Neurology, 67(3): 519-21.
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