Journal
NEUROLOGY
Volume 67, Issue 3, Pages 519-521Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000227960.38262.0c
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Funding
- NEI NIH HHS [R01 EY015311, R01 EY013583, R01 EY13583, R01 EY008313, R01 EY008313-16, R01 EY15311, R01 EY008313-15] Funding Source: Medline
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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.
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