Diffusion tensor imaging in horizontal gaze palsywith progressive scoliosis

Avadhani, Ashwin; Ilayaraja, Venkatachalam; Shetty, Ajoy Prasad; Rajasekaran, Shanmuganathan

doi:10.1016/j.mri.2009.10.004

Cited by 30 publications

(25 citation statements)

References 10 publications

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“…In previous reports, DTI revealed the absence of major crossing pathways in the pons and midbrain in HGPPS [2-5]. Our case also showed uncrossed corticospinal tract on DTI.…”

Section: Discussionsupporting

confidence: 72%

“…The syndrome also includes a distinctive brain stem malformation and defective crossing of certain brain stem neuronal pathways. A few reports have used diffusion tensor imaging (DTI) to identify specific fiber tracts and their directionality in HGPPS and have shown the absence of major crossing pathways within the pons and midbrain [2-5]. …”

Section: Introductionmentioning

confidence: 99%

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Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

et al. 2015

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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. Diffusion tensor imaging (DTI) tractography confirmed the presence of uncrossed corticospinal tracts. Sequence analysis of the entire ROBO3 coding regions revealed a novel nonsense mutation.

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“…In previous reports, DTI revealed the absence of major crossing pathways in the pons and midbrain in HGPPS [2-5]. Our case also showed uncrossed corticospinal tract on DTI.…”

Section: Discussionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

et al. 2015

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“…1) [4,6,10,12–15]. A HGPPS patient harboring ROBO3 mutations who suffered a stroke in the motor cortex resulting in ipsilateral limb weakness and facial palsy further confirmed uncrossed CST in this disorder [10].…”

Section: Horizontal Gaze Palsy With Progressive Scoliosismentioning

confidence: 98%

“…MRI, functional MRI, DTI, and evoked potential studies of HGPPS patients reveal a normal corpus callosum [12–15], but a virtually pathognomonic hindbrain malformation that correlates with failure of the corticospinal tracts (CST) and dorsal column tracts to decussate in the hindbrain (Fig. 1) [4,6,10,12–15].…”

Section: Horizontal Gaze Palsy With Progressive Scoliosismentioning

confidence: 99%

Human disorders of axon guidance

Nugent

Kolpak

Engle

2012

Current Opinion in Neurobiology

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Axon pathfinding is essential for the establishment of proper neuronal connections during development. Advances in neuroimaging and genomic technologies, coupled with animal modeling, are leading to the identification of an increasing number of human disorders that result from aberrant axonal wiring. In this review, we summarize the recent clinical, genetic and molecular advances with regard to three human disorders of axon guidance: Horizontal gaze palsy with progressive scoliosis, Congenital mirror movements, and Congenital fibrosis of the extraocular muscles, Type III.

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“…In the rodent nervous system, orthologous Robo1 and Robo2 genes (Kidd et al, 1998a) and a structurally divergent Robo3 gene (Yuan et al, 1999) are expressed. In humans, mutations of ROBO3 impair crossing of somatosensory and motor pathways, as was demonstrated in patients with a syndrome of horizontal gaze palsy with progressive scoliosis (Jen et al, 2004;Sicotte et al, 2006;Avadhani et al, 2010;Ng et al, 2011). However, the neurodevelopmental roles of the human ROBO2 and ROBO1 genes remain unclear, apart from the suggested involvement of ROBO1 in dyslexia (Hannula-Jouppi et al, 2005) and possibly in autism (Anitha et al, 2008); the linkage between dyslexia and the genomic region (3p13) near ROBO1 has also been demonstrated in a large genome-wide scan (Fisher et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

HumanROBO1Regulates Interaural Interaction in Auditory Pathways

et al. 2012

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In rodents, the Robo1 gene regulates midline crossing of major nerve tracts, a fundamental property of the mammalian CNS. However, the neurodevelopmental function of the human ROBO1 gene remains unknown, apart from a suggested role in dyslexia. We therefore studied axonal crossing with a functional approach, based on magnetoencephalography, in 10 dyslexic individuals who all share the same rare, weakly expressing haplotype of the ROBO1 gene. Auditory-cortex responses were recorded separately to left-and right-ear sounds that were amplitude modulated at different frequencies. We found impaired interaural interaction that depended on the ROBO1 in a dosedependent manner. Our results indicate that normal crossing of the auditory pathways requires an adequate ROBO1 expression level.

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Diffusion tensor imaging in horizontal gaze palsywith progressive scoliosis

Cited by 30 publications

References 10 publications

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

Human disorders of axon guidance

HumanROBO1Regulates Interaural Interaction in Auditory Pathways

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