Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing

Amoiridis, Georgios; Tzagournissakis, Minas; Christodoulou, Panayiotis; Karampekios, Spyros; Latsoudis, Helen; Panou, Τheodora; Simos, Panagiotis G.; Plaitakis, Andreas

doi:10.1136/jnnp.2006.088435

Cited by 49 publications

(37 citation statements)

References 21 publications

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“…2 Axial T2-weighted slices demonstrate the hypoplastic pons and medulla with a prominent midline cleft and the resulting characteristic "butterfly" configuration of connectivities [13]. Additionally, a partial crossing of the dorsal column-medial lemniscal system was observed in one patient [6]. Note that DTI tractography depends on the selected ROI and tractography algorithm.…”

Section: Discussionmentioning

confidence: 99%

“…This rare disease is of particular interest because it suggests abnormal ipsilateral instead of the normal contralateral sensory and motor pathways. This was demonstrated neuroradiographically by diffusion tensor imaging (DTI) [4] and electrophysiologically by somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP) [2,5,6], or intraoperative neurophysiology [7]. No study has combined DTI and electrophysiology in the same patient.…”

Section: Introductionmentioning

confidence: 99%

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Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

2008

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Introduction Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disease due to a mutation in the ROBO3 gene. This rare disease is of particular interest because the absence, or at least reduction, of crossing of the ascending lemniscal and descending corticospinal tracts in the medulla predicts abnormal ipsilateral sensory and motor systems. Methods We evaluated the use of functional magnetic resonance imaging (fMRI) for the first time in this disease and compared it to diffusion tensor imaging (DTI) tractography and neurophysiological findings in the same patient with genetically confirmed ROBO3 mutation. Results As expected, motor fMRI, somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP) were dominantly ipsilateral to the stimulation side. DTI tractography revealed ipsilateral ascending and descending connectivity in the brainstem yet normal interhemispheric connections in the corpus callosum. Auditory fMRI revealed bilateral auditory activation to monaural left-sided auditory stimulation. No significant cortical activation was observed after monaural right-sided stimulation, a hearing defect having been excluded. Prosaccades fMRI showed no activations in the eye-movement network. Conclusion Motor fMRI confirmed the established findings of DTI and neurophysiology in the same patient. In suspected HGPPS, any technique appears appropriate for further investigation. Auditory fMRI suggests that a monaural auditory system with bilateral auditory activations might be a physiological advantage as compared to a binaural yet only unilateral auditory system, in analogy to anisometropic amblyopia. Moving-head fMRI studies in the future might show whether the compensatory head movements instead of normal eye movements activate the eyemovement network.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

2008

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“…Asymmetric intermittent blinking and nystagmus may be present [33][34][35][36] . The pathophysiology of this interesting association between distinct neuroophthalmological and bone structural abnormalities remained obscure until 2004, when Jen at al.…”

Section: Progressive Scoliosis and Horizontal Gaze Palsymentioning

confidence: 99%

“…Since ROBO3 protein is required for hindbrain axon midline crossing, its dysfunction causes malformations in brainstem structures as well as non-crossing of corticospinal and posterior spinal tracts. Although the pathophysiology behind progressive scoliosis development remain partially unknown, it has been suggested that the lack of tracts crossing may contribute to bad regulation of the paraspinal muscles tonus and provoke scoliosis 36 .…”

Section: Progressive Scoliosis and Horizontal Gaze Palsymentioning

confidence: 99%

“…linked the picture to a mutation in the ROBO3 gene located to the long arm of chromosome 11 (11q23-25). The guidance receptor Robo3/Rig1 belongs to a transmembrane receptor family that expresses in growing axons and are indispensable for controlling axons grow, leading them to accomplish their task 36 . Since ROBO3 protein is required for hindbrain axon midline crossing, its dysfunction causes malformations in brainstem structures as well as non-crossing of corticospinal and posterior spinal tracts.…”

Section: Progressive Scoliosis and Horizontal Gaze Palsymentioning

confidence: 99%

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Neuropareidolia: diagnostic clues apropos of visual illusions

Maranhão-Filho

Vincent

2009

Arq. Neuro-Psiquiatr.

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-Diagnosis in neuroimaging involves the recognition of specific patterns indicative of particular diseases. Pareidolia, the misperception of vague or obscure stimuli being perceived as something clear and distinct, is somewhat beneficial for the physician in the pursuit of diagnostic strategies. Animals may be pareidolically recognized in neuroimages according to the presence of specific diseases. By associating a given radiological aspect with an animal, doctors improve their diagnostic skills and reinforce mnemonic strategies in radiology practice. The most important pareidolical perceptions of animals in neuroimaging are the hummingbird sign in progressive supranuclear palsy, the panda sign in Wilson's disease, the panda sign in sarcoidosis, the butterfly sign in glioblastomas, the butterfly sign in progressive scoliosis and horizontal gaze palsy, the elephant sign in Alzheimer's disease and the eye-of-the-tiger sign in pantothenate kinase-associated neurodegenerative disease.KEY WORDS: pareidolia, neuroimaging, progressive supranuclear palsy, Wilson's disease, sarcoidosis, glioblastomas, progressive scoliosis and horizontal gaze palsy, Alzheimer's disease, pantothenate kinaseassociated neurodegenerative disease.Neuropareidolia: pista diagnóstica a partir de uma ilusão visual resumo -O diagnóstico em neuroimagem envolve o reconhecimento de padrões específicos indicativos de doenças particulares. Pareidolia, é a perceção equivocada de algo claro e distinto a partir de um estímulo vago e obscuro, por vezes benéfico a quem interpreta exames de imagem na procura do diagnóstico. A este propósito, alguns animais podem pareidolicamente ser reconhecidos em neuroimagens associadas a determinadas doenças específicas, promovendo mais rapidez na habilidade diagnóstica e naturalmente reforçando estratégias mnemônicas individuais na prática do diagnóstico neuroradiológico. Alguns dos sinais de neuroimagens relacionados a percepções pareidolicas de animais são: o sinal do beja-flor na paralisia supra nuclear progressiva; o sinal do panda na doença de Wilson; o sinal do panda na sarcoisdose; o sinal da borboleta no glioblastoma; o sinal da borboleta no escoliose progressiva e paralisia do olhar horizontal; o sinal do elefante na doença de Alzheimeir; e o sinal do olho de tigre na doença degenerativa ligada a pantothenato kinase. PALAVRAS-CHAVE: pareidolia, neuroimagem, paralisia supranuclear progressiva, doença de Wilson, sarcoidose, glioblastoma, escoliose progressiva e paralisia do olhar horizontal, doença de Alzheimer, doença neurodegenerativa associada a pantothenate kinase.

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Genetic Basis of Congenital Strabismus

Engle¹

2007

Arch Ophthalmol

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S trabismus is misalignment of one eye in relation to the other, resulting in failure of the 2 eyes to simultaneously focus on the same image and loss of binocular vision. Strabismus affects 2% to 4% of the population and can result in amblyopia, which is often not discovered in time to initiate effective treatment. Thus, an understanding of the genetic underpinnings of strabismus may help identify patients at risk early enough to prevent disability and may lead to new preventive or therapeutic approaches.

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Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing

Cited by 49 publications

References 21 publications

Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

Neuropareidolia: diagnostic clues apropos of visual illusions

Genetic Basis of Congenital Strabismus

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