Mutation in ROBO3 gene recently demonstrated in patients with horizontal gaze palsy with progressive scoliosis.
نویسنده
چکیده
Patients with Horizontal Gaze Palsy with Progressive Scoliosis The recent report in AJNR by dos Santos et al shows a case of MR imaging features in a child with horizontal gaze palsy with progressive scoliosis. This rare disorder has recently been shown by Jen et al to be secondary to defective brain stem crossing of descending corticospinal and somatosensory axons due to mutations in the ROBO3 gene that is necessary for axon crossing in the hindbrain.
منابع مشابه
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct.
BACKGROUND AND PURPOSE horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder caused by mutation in the ROBO3 gene. It is characterized by absent horizontal eye movements with progressive scoliosis developing in childhood and adolescence. To our knowledge, both diffusion tensor imaging evaluation in HGPPS patients who present with stroke and truncating stop codon...
متن کاملIpsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
BACKGROUND Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem. CASE PRESENTATION We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. Diffusi...
متن کاملHorizontal gaze palsy with progressive scoliosis: Three novel ROBO3 mutations and descriptions of the phenotypes of four patients
PURPOSE Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene. METHODS Four patients (aged 6 months to 13 years), two of them siblings, with features of horizontal gaze palsy and their parents were examined clinica...
متن کاملDiffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations.
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 RO...
متن کاملUnidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish.
The Roundabout (Robo) family of receptors and their Slit ligands play well-established roles in axonal guidance, including in humans where horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the robo3 gene. Although significant progress has been made toward understanding the mechanism by which Robo receptors establish commissural projections in the central nervous...
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عنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 28 2 شماره
صفحات -
تاریخ انتشار 2007