Neuropathology of genetically defined malformations of cortical development—A systematic literature review

Brock, Stefanie; Cools, Filip; Jansen, Anna

doi:10.1111/nan.12696

Cited by 11 publications

(10 citation statements)

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“…As novel LIS-related genes have been discovered, microscopic presentation variations have been reported due to genetic pathogenesis. Pathogenic variants in the ARX gene causing complete loss of protein function lead to the development of a three-layered cortex [24,25]. The process of CST development in patients with an abnormal cortical layer has not been clarified; however, we speculate that a lack of a normal layer V might be involved in CST abnormality.…”

Section: Discussionmentioning

confidence: 87%

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study

et al. 2021

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Purpose To clarify brain abnormalities on magnetic resonance imaging (MRI) and its clinical implications in lissencephaly/ subcortical band heterotopia (LIS/SBH) spectrum patients. Methods The clinical severity and classification according to Di Donato were retrospectively reviewed in 23 LIS/SBH spectrum patients. The morphological and signal abnormalities of the brainstem, corpus callosum, and basal ganglia were also assessed. The brainstem distribution pattern of the corticospinal tract (CST) was analyzed by diffusion tensor imaging (DTI) and categorized into two types: normal pattern, in which the CST and medial lemniscus (ML) are separated by the dorsal portion of the transverse pontine fiber, and the abnormal pattern, in which the CST and ML are juxtaposed on the dorsal portion of a single transverse pontine fiber. Correlations between MR grading score and potential additional malformative findings of the brain and clinical symptoms were investigated. Results All patients with grade 3 (n = 5) showed brainstem deformities, signal abnormalities of pontine surface and had a tendency of basal ganglia deformity and callosal hypoplasia whereas those abnormalities were rarely seen in patients with grade 1 and 2 (n = 18). For DTI analysis, the patients with grade 3 LIS/SBH had typically abnormal CST, whereas the patients with grade 1 and 2 LIS/SBH had normal CST. The classification was well correlated with CST and brainstem abnormalities and clinical severity. Conclusion MR assessment including DTI analysis may be useful in assessing the clinical severity in LIS/BH spectrum and may provide insight into its developmental pathology.

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Section: Discussionmentioning

confidence: 87%

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study

et al. 2021

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“…In 2016, the World Health Organization provided guidelines for making an integrated diagnosis in a subset of brain tumors. Since then, there have been periodic updates and clarifications reflecting the expanding knowledge on the molecular pathology of brain tumors, but at the same time raising a challenge in rapidly incorporating new molecular findings into diagnostic practice (45, 63). Although in epileptology, we are only about to start accumulating such molecular data, and the precision of identified markers has already been demonstrated, supporting an integrated diagnostic approach in structural brain lesions associated with epilepsy.…”

Section: A New Approach To Molecular Disease Diagnosis and Future Challengesmentioning

confidence: 99%

Molecular diagnostics in drug‐resistant focal epilepsy define new disease entities

et al. 2021

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Structural brain lesions, including the broad range of malformations of cortical development (MCD) and glioneuronal tumors, are among the most common causes of drug‐resistant focal epilepsy. Epilepsy surgery can provide a curative treatment option in respective patients. The currently available pre‐surgical multi‐modal diagnostic armamentarium includes high‐ and ultra‐high resolution magnetic resonance imaging (MRI) and intracerebral EEG to identify a focal structural brain lesion as epilepsy underlying etiology. However, specificity and accuracy in diagnosing the type of lesion have proven to be limited. Moreover, the diagnostic process does not stop with the decision for surgery. The neuropathological diagnosis remains the gold standard for disease classification and patient stratification, but is particularly complex with high inter‐observer variability. Here, the identification of lesion‐specific mosaic variants together with epigenetic profiling of lesional brain tissue became new tools to more reliably identify disease entities. In this review, we will discuss how the paradigm shifts from histopathology toward an integrated diagnostic approach in cancer and the more recent development of the DNA methylation‐based brain tumor classifier have started to influence epilepsy diagnostics. Some examples will be highlighted showing how the diagnosis and our mechanistic understanding of difficult to classify structural brain lesions associated with focal epilepsy has improved with molecular genetic data being considered in decision making.

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“…No entanto, os fatores genéticos têm sido reconhecidos como a etiologia primária em um número crescente de malformações corticais (Wong e Roper, 2016). Até o presente momento, por exemplo, já foram identificados pelo menos 132 genes associados a malformações do desenvolvimento cortical (Brock et al, 2021).…”

Section: Malformações Do Desenvolvimento Corticalunclassified

Sequenciamento completo do exoma no diagnóstico de defeitos do desenvolvimento cerebelar e da migração neuronal cerebral

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Ao meu filho Lucas, nascido durante este trajeto, que se revelou minha maior fonte de aprendizado.Ao meu esposo Ramon, pelo incentivo desde o início deste projeto. À minha avó Maria (mesmo hoje sem lucidez, sua presença me inspira) e meu avô Elias (in memorian), que sempre me incentivaram. Ao meu pai Aluízio, irmãos e família que, mesmo distantes, são alicerces. Agradecimentos. Ao meu professor e orientador Prof. Dr. Fernando Kok, por dividir tão valiosos conhecimentos, sobretudo pela compreensão, apoio e paciência neste trajeto que foi interpelado por tantos obstáculos.À querida amiga e excelente profissional Lúcia Inês Macedo de Souza, por toda a assessoria, o auxílio nos necessários conhecimentos de genética molecular e o incentivo à conclusão deste trabalho. Obrigada por tudo! Às amigas Luciana Midori Inuzuka, por todo o apoio, incentivo e suporte (você foi essencial), mesmo atarefada com sua própria tese, e Mariana Espíndola, pela participação valiosa na coleta de dados. Aos radiologistas Maria das GraçasMorais Martin e Daniel Delgado pela robusta participação, revisando os exames de neuroimagem e, inclusive, auxiliando na busca ativa dos mesmos. Vocês foram incríveis! À secretária da Pós-Graduação em Neurologia / FMUSP, Thais Figueira, pelas orientações e apoio em todas as dificuldades do caminho. Obrigada! Ao Dr. Luiz Henrique Castro e à chefe da Pós Graduação da USP, Ângela V. Silva Guedes, pela compreensão e atitude humana, possibilitando a conclusão deste trabalho dentro do tempo que foi necessário.Às Dras. Fernanda Góes, Eliana Garzón e Vanessa van der Linden pelo compartilhamento de informações (previamente consentidas) sobre seus pacientes, gentilmente cedidas para esta obra.A todos os pacientes e seus responsáveis, motivação primeira de todos os esforços de produção científica, por sua irrestrita doação a este trabalho, pela paciência, tempo e incrível disposição em contribuir com o seu bem mais precioso para a evolução do conhecimento científico. Vocês são a essência deste trabalho! Ao meu filho Lucas e esposo Ramon, pela compreensão em tantos momentos da minha necessária ausência. À minha avó Maria da Conceição, pela presença em todos os momentos, mesmo hoje sem lucidez; ao meu pai Aluízio, irmãos e família paterna, por serem meus alicerces sempre. Todos vocês são essência do que sou! "Muitos afirmam que tudo o que sabemos ainda é infinitamente menos do que tudo o que ainda permanece desconhecido".

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Neuropathology of genetically defined malformations of cortical development—A systematic literature review

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 11 publications

References 100 publications

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study

Molecular diagnostics in drug‐resistant focal epilepsy define new disease entities

Sequenciamento completo do exoma no diagnóstico de defeitos do desenvolvimento cerebelar e da migração neuronal cerebral

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