Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations

Allelic ROBO3 Heterogeneity in Tunisian Patients with Horizontal Gaze Palsy with Progressive Scoliosis

“…None of these mutations have been reported previously except for the c.733C>T mutation which has been reported as a compound heterozygous with the c.2317C>T mutation (Chan et al 2006). Table 1 lists all previously reported mutations of ROBO3 associated with HGPPS (Bosley et al 2005;Abu-Amero et al 2009) together with the five mutations described here. These mutations are scattered throughout the ROBO3 gene without a specific region or domain that can be considered a hot-spot area for mutations.…”

An uncommon case of horizontal Gaze Palsy with scoliosis and associated brain-stem anomaly (HGPPS)

“…Visual acuity is reported not to be grossly impaired . [11] The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body.…”

Development and plasticity of commissural circuits: from locomotion to brain repair

“…These patients are unable to perform conjugate lateral eye movements and develop a severe scoliosis during childhood, but otherwise appear normal. Analysis of HGPPS patients revealed that descending commissural tracts, such as the CST, or ascending commissural axons conveying sensory inputs to the thalamus and cortex are rerouted ipsilaterally, but patients have a normal corpus callosum [85][86][87][88][89]. Surprisingly, patients seem to be coordinated and do not exhibit mirror movements.…”