DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification

Wit, Marie Claire Y. de; Lequin, Maarten H.; Coo, I.F.M. de; Brusse, Esther; Halley, Dicky; Graaf, Raoul van de; Dobyns, William B.; Schot, Rachel; Verheijen, Frans W.; Mancini, Grazia M.S.

doi:10.1016/s1090-3798(08)70344-1

Cited by 12 publications

(21 citation statements)

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“…Several particular patterns of polymicrogyria have been described; the main one is bilateral perisylvian polymicrogyria, clinically characterized by a combination of pseudobulbar palsy, spastic tetraparesis, learning difficulties and epilepsy. Some specific combinations of periventricular nodular heterotopia with overlying polymicrogyria have also been described 3,46,48,49 . Moreover, the fact that there is necrotic tissue within the malformed cortex, that most changes occur in the middle cerebral artery territory, and the existence of polymicrogyria adjacent to the borders of schizencephaly and porencephaly, suggest that hypoxic-ischemic insults may, at least in some cases, be related to the genesis of polymicrogyria 5 .…”

Section: Polymicrogyriamentioning

confidence: 98%

“…These embryological steps should not be viewed as separate sequential processes, but as a complex mechanism that ultimately results in brain formation. The classification is based on the earliest stage at which the abnormality occurs, together with pathological, genetic and imaging aspects 2,3 . The description of radial glia dates from the 19 th century and has strongly influenced the history of neuroscience 8 .…”

Section: Classification Of MCD and Normal Cortical Developmentmentioning

confidence: 99%

“…Disturbances in several molecular pathways [11][12][13][14][15] that regulate these complex mechanisms may have a genetic basis 3,10 , although exogenous insults, such as cytomegalovirus infection, can also cause some types of MCD; the nature and timing of the insult in relation to the development process are the factors that determine the type of MCD.…”

Section: Classification Of MCD and Normal Cortical Developmentmentioning

confidence: 99%

“…Mutations in any of these genes can lead to any of these disorders or combinations of them, in men or women. Other genes also seem involved in the generation of this phenotype, such as YWHAE, ARX, TUBA1A and RELN 2,3,5,36,41 . Lissencephaly may occur in isolation or as part of other syndromes.…”

Section: Hemimegalencephalymentioning

confidence: 99%

“…Malformations of cortical development (MCD) are highly epileptogenic lesions and some cases also present in childhood with early encephalopathy, neurodevelopmental delay, motor deficits and learning difficulties [1][2][3][4][5] . Neuroimaging is an extremely important tool in the evaluation of patients with refractory epilepsy and constant advances in diagnostic imaging techniques have improved our ability in identifying focal lesions.…”

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confidence: 99%

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Malformations of cortical development: current concepts and advanced neuroimaging review

Andrade

Leite

2011

Arq. Neuro-Psiquiatr.

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Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction. Nowadays, magnetic resonance imaging (MRI) is the cornerstone of the work-up of patients with epilepsy and modern advanced imaging techniques have improved not only our ability to detect and characterize cortical malformations, but also in identifying associated functional abnormalities that are far beyond the structural visualized lesions. Herein, we address the most currently used classifications of MCD and make a concise review of the embryological process of cortical development. Our main goal is to summarize recent advances and new trends in diagnostic imaging techniques concerning MCD. Thereafter, follows a brief discussion of specific disorders and their radiological features. Key words: malformations of cortical development, epilepsy, magnetic resonance imaging, diagnostic imaging.Malformações do desenvolvimento cortical: conceitos atuais e revisão de neuro imagem avançada RESUMO As malformações do desenvolvimento cortical (MDC) resultam de distúrbios no complexo processo do desenvolvimento do córtex cerebral humano e estão comumente associadas a epilepsia severa e disfunções neuropsicomotoras. Atualmente, as imagens por ressonância magnética (RM) são a pedra angular no manejo de pacientes com epilepsia e modernas técnicas avançadas de imagem melhoraram não só a nossa capacidade de detectar e caracterizar as malformações corticais, mas também levaram ao reconhecimento de anomalias funcionais associadas que estão muito além das lesões estruturais visibilizadas. Abordaremos as classificações mais utilizadas de MDC e revisaremos a embriologia do desenvolvimento cortical. Nosso principal objetivo é destacar os avanços recentes e as novas tendências em técnicas de diagnóstico por imagens relacionadas às MDC. Em seguida, faremos uma breve discussão sobre alguns transtornos específicos e suas características radiológicas. Palavras-chave: malformações do desenvolvimento cortical, epilepsia, imagem por ressonância magnética, diagnóstico por imagem.

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Section: Polymicrogyriamentioning

confidence: 98%

Section: Classification Of MCD and Normal Cortical Developmentmentioning

confidence: 99%

Section: Classification Of MCD and Normal Cortical Developmentmentioning

confidence: 99%

Section: Hemimegalencephalymentioning

confidence: 99%

mentioning

confidence: 99%

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Malformations of cortical development: current concepts and advanced neuroimaging review

Andrade

Leite

2011

Arq. Neuro-Psiquiatr.

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Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

Wit

Coo

Schot

et al. 2010

American J of Med Genetics Pt A

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Malformations of cerebral cortical development, in particular periventricular nodular heterotopia (PNH), and distal transverse limb deficiency have been reported as associated congenital anomalies. Patients with PNH and transverse limb deficiency can be classified as having amniotic band sequence or Adams-Oliver syndrome (AOS). Controversy exists whether these should be considered separate entities. In some AOS patients, autosomal recessive inheritance has been shown, but in most patients causes are unknown, and both environmental and genetic factors have been implicated. We present three patients with PNH and distal transverse limb deficiency to support the hypothesis that these should be considered part of one group of disorders, and highlight the variable severity of the clinical and neuroradiological phenotype. Chromosome abnormalities were excluded by copy number analysis on 250K SNP microarray data.Research done on limb deficiency as on PNH caused by mutations in known genes, suggests the involvement of vascular developmental pathways. The combination of limb deficiency and PNH may have a common causative mechanism. Recognition and grouping of patients with this combination of abnormalities will help elucidating the cause.

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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Kia

Verbeek

Engelen

et al. 2012

The American Journal of Human Genetics

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Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer molecular layer. We have identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicrogyria from two separate families. Rotatin determines early embryonic axial rotation, as well as anteroposterior and dorsoventral patterning in the mouse. Human Rotatin has recently been identified as a centrosome-associated protein. The Drosophila melanogaster homolog of Rotatin, Ana3, is needed for structural integrity of centrioles and basal bodies and maintenance of sensory neurons. We show that Rotatin colocalizes with the basal bodies at the primary cilium. Cultured fibroblasts from affected individuals have structural abnormalities of the cilia and exhibit downregulation of BMP4, WNT5A, and WNT2B, which are key regulators of cortical patterning and are expressed at the cortical hem, the cortex-organizing center that gives rise to Cajal-Retzius (CR) neurons. Interestingly, we have shown that in mouse embryos, Rotatin colocalizes with CR neurons at the subpial marginal zone. Knockdown experiments in human fibroblasts and neural stem cells confirm a role for RTTN in cilia structure and function. RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals.

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DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification

Cited by 12 publications

References 0 publications

Malformations of cortical development: current concepts and advanced neuroimaging review

Malformations of cortical development: current concepts and advanced neuroimaging review

Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

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