Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis.

A 24-year-old-woman woman presented with birth-onset horizontal gaze ophthalmoplegia. Past medical history was unremarkable. Her brother had similar findings with severe progressive scoliosis, requiring surgery. After 12 years of follow-up, the patient developed mild head tremor which did not bother her and nightmare disorders that was successfully treated with nortriptyline Spine X-rays revealed mild scoliosis. Whole exome analysis revealed c.906-17G>A mutation in splicing site, confirming horizontal gaze palsy with progressive scoliosis (HGPPS). Diffusion tensor imaging (DTI) tractography revealed parallel non-decussating [...]