Stages and Patterns of Centrifugal Arrest of Diffuse Neuronal Migration Disorders

Palmini, André; Andermann, Frédérick; Grissac, H de; Tampieri, Donatella; Robitaille, Yvonne; Langevin, Pierre; Desbiens, Richard; Andermann, Eva

doi:10.1111/j.1469-8749.1993.tb11645.x

Cited by 53 publications

(1 citation statement)

References 22 publications

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“…Isso sugere que a interferência no processo migratório ocorre mais tardiamente ou afeta a um número mais limitado de fibras gliais radiais, permitindo que as células continuem sua migração pelas fibras remanescentes. Esta DDC apresenta padrão mais preservado que formas mais graves, como lisencefalia (12) . Os mecanismos genéticos da heterotopia subcortical laminar estão sendo estudados, havendo sugestão de herança ligada ao cromossomo X, de tal forma que os pacientes do sexo masculino são mais seriamente afetados (7) .…”

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Epilepsia e desordens de malformação do desenvolvimento cortical

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Hertz

Gruetzmacher

et al. 2006

J. epilepsy clin. neurophysiol.

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OBJETIVOS: As desordens do desenvolvimento cortical (DDC) constituem a segunda causa de epilepsia refratária. Diversas patologias estão incluídas nas DDC. Seu diagnóstico foi facilitado com o desenvolvimento na neuroimagem. MÉTODOS: No presente artigo, apresentamos sete casos divididos em três grupos, de acordo com o mecanismo de produção das DDC: 1) anormalidades da proliferação e diferenciação de neurônios da glia; 2) anormalidades de migração neuronal; 3) anormalidades na organização neuronal. A investigação consistiu em história mais exame neurológico, avaliação neuropsicológica, ressonância magnética e eletrencefalograma. RESULTADOS E CONCLUSÕES: Três pacientes apresentaram displasia cortical focal, dois apresentaram heterotopia em banda, um paciente apresentava lisencefalia e uma apresentava esquizencefalia. Todos os pacientes apresentavam epilepsia de difícil controle. Malformações corticais constituem um grupo heterogêneo de causas de epilepsia de difícil controle. É importante para o manejo médico que as diversas formas de malformações corticais sejam conhecidas e diagnosticadas, o que foi facilitado pelo advento da ressonância magnética.

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Section: Discussionunclassified

Epilepsia e desordens de malformação do desenvolvimento cortical

Meneses

Hertz

Gruetzmacher

et al. 2006

J. epilepsy clin. neurophysiol.

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Subcortical connections of normotopic and heterotopic neurons in sensory and motor cortices of thetish mutant rat

et al. 1998

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Orthograde and retrograde tracers were used to examine subcortical connections of neurons in the neurological mutant tish rat. This animal exhibits bilateral heterotopia similar to those observed in epileptic humans with subcortical band heterotopia. Terminal varicosities were labeled in the striatum, thalamus, brainstem, and spinal cord following injections of the anterograde tracer biotinylated dextran amine (BDA) into the heterotopic cortex. The general topography of corticothalamic projections was evaluated by injecting the retrograde tracer Fluoro-Gold (FG) into ventral thalamic nuclei. Retrograde labeling of small-to-medium sized neurons was observed in layer VI of topographically restricted portions of the normotopic cortex. Similar appearing cells were labeled in the neighboring portions of the underlying heterotopia; however, these neurons did not display characteristic lamination or radial orientation. Thalamocortical terminals labeled by injecting BDA into the ventroposterolateral nucleus (VPL) were observed primarily in layer IV of the medial aspect of the normotopic somatosensory cortex. In contrast, a radial column of terminals was present in the underlying heterotopia. Typical barrel labeling was found in the lateral aspect of the normotopic somatosensory cortex after injecting the ventroposteromedial nucleus (VPM), whereas more diffuse patches of labeling were observed in the underlying heterotopia. Heterotopic neurons in the tish cortex, thus, exhibit characteristic features of subcortical connectivity. Both normotopic and heterotopic neurons in the tish brain project to appropriate subcortical sites and establish bidirectional topographic connections with the thalamus. These results suggest that primary sensory-motor information is represented in a parallel manner in the normotopic and heterotopic cortices of the tish rat.

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Characterization of mutations in the genedoublecortin in patients with double cortex syndrome

et al. 1999

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Mutations in the X‐linked gene doublecortin, which encodes a protein with no clear structural homologues, are found in pedigrees in which affected females show “double cortex” syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and affected males show X‐linked lissencephaly. Mutations in doublecortin also cause sporadic DC in females. To determine the incidence of doublecortin mutations in DC, we investigated a cohort of eight pedigrees and 47 sporadic patients with DC for mutations in the doublecortin open reading frame as assessed by single‐stranded conformational polymorphism analysis. Mutations were identified in each of the eight DC pedigrees (100%), and in 18 of the 47 sporadic DC patients (38%). Identified mutations were of two types, protein truncation mutations and single amino acid substitution mutations. However, pedigrees with DC displayed almost exclusively single amino acid substitution mutations, suggesting that patients with these mutations may have less of a reproductive disadvantage versus those patients with protein truncation mutations. Single amino acid substitution mutations were tightly clustered in two regions of the open reading frame, suggesting that these two regions are critical for the function of the Doublecortin protein. Ann Neurol 1999;45:146–153

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Stages and Patterns of Centrifugal Arrest of Diffuse Neuronal Migration Disorders

Cited by 53 publications

References 22 publications

Epilepsia e desordens de malformação do desenvolvimento cortical

Epilepsia e desordens de malformação do desenvolvimento cortical

Subcortical connections of normotopic and heterotopic neurons in sensory and motor cortices of thetish mutant rat

Characterization of mutations in the genedoublecortin in patients with double cortex syndrome

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