Abstract
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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Brain Diseases / genetics*
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Brain Diseases / pathology
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Brain Stem / pathology*
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DNA Mutational Analysis
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Diffusion Magnetic Resonance Imaging
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Family Health
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Female
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Genetic Predisposition to Disease*
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Humans
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Male
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Mutation
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Pedigree
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Receptors, Cell Surface
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Receptors, Immunologic / genetics*
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Scoliosis / genetics
Substances
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ROBO3 protein, human
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Receptors, Cell Surface
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Receptors, Immunologic