Developmental language disorder associated with polymicrogyria

Guerreiro, MM; Hage, Simone Rocha de Vasconcellos; Guimaraes, C.; Abramides, Dagma Venturini Marques; Fernandes, Walter Luis Magalhães; Pacheco, P.; Piovesana, Amsg M. S. G.; Montenegro, Maria Augusta; Cendes, Fernando

doi:10.1212/wnl.59.2.245

Cited by 67 publications

(74 citation statements)

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“…Bilateral perisylvian polymicrogyria (BPP) is usually symmetrical and genetically heterogeneous. 12 Mutations of SRPX2 have been related to BPP, but the role of this gene needs to be confirmed. 2 Asymmetric BPP, with a striking predisposition for the right hemisphere, has been associated with 22q11.2 deletions.…”

Section: Discussionmentioning

confidence: 99%

“…2 Asymmetric BPP, with a striking predisposition for the right hemisphere, has been associated with 22q11.2 deletions. 12 Mutations of GPR56 have been reported in patients with bilateral frontoparietal polymicrogyria, 4 a recessive disorder with MRI characteristics resembling those of the cobblestone malformations spectrum. 2 TUBB2B mutations have previously been associated with anteriorly predominant asymmetrical polymicrogyria, 5 more severe in the fronto-parietal areas, and involving the perisylvian region with left-sided predominance.…”

Section: Discussionmentioning

confidence: 99%

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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

et al. 2012

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The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes. Mutation analysis of the TUBB2B gene was performed. We identified three new TUBB2B mutations in three unrelated patients (3 out of 128; 2.3%) with a diffuse and rather symmetrical cortical abnormality, including diffuse polymicrogyria in two and bilateral regional pachygyria in one. One patient harbored a p.Asp417Asn amino-acid substitution in the C-terminal domain of the protein; one patient a p.Asn256Ser amino-acid substitution in the intermediate domain and one patient a p.Leu117Pro amino-acid substitution in the N-terminal domain. The localization of each mutation within the secondary structure of the b2-tubulin polypeptide suggests that these mutations might alter the proper functions of microtubules. The phenotypic spectrum associated with TUBB2B mutations is wider than previously reported and includes diffuse, symmetric malformations of cortical development. Keywords: malformations of cortical development; TUBB2B; tubulins; mutation analysis INTRODUCTION Polymicrogyria is a common cortical malformation characterized by an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. Brain pathology demonstrates abnormal development or loss of neurons in middle and deep cortical layers, variably associated with an unlayered cortical structure. 1,2 Several genes have been associated with polymicrogyria, including GPR56, SRPX2, TUBB2B, TUBB3, PAX6, TBR2, KIAA1279, NHEJ1, RAB3GAP1 and TUBA8 2-4 with all but GPR56, TUBB3 and TUBB2B found in rare syndromes. Mutations in TUBB2B have been reported in four patients and in one fetus with complex brain dysgenesis with asymmetrical, anteriorly predominant polymicrogyria. 5 We performed TUBB2B mutation analysis in 128 patients in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, to investigate how common TUBB2B mutations are in this spectrum of malformations and whether previously suggested imaging criteria need to be expanded.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

et al. 2012

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“…DEL se caracteriza por aquisição inadequada de linguagem em crianças sem qualquer outra alteração do desenvolvimento cognitivo. São crianças que apresentam audição normal à audiometria, ausência de t r a n s t o rnos cerebrais crônicos pela avaliação neurológica clínica, ausência de alteração estrutural na m o rfologia bucal e discrepância entre habilidades intelectuais verbais e não verbais (sendo estas geralmente norm a i s ) 1 . Alguns podem apresentar dislexia na evolução.…”

Section: Discussionunclassified

“…S í n d rome peri-sylviana (SP) ou opercular re f e rese a diversas manifestações clínicas que podem a c o mpanhar lesões que comprometem a região peri-sylviana ou operc u l a r 1 . A primeira descrição de quadro clínico correlacionado com lesão peri-sylviana foi de Foix, Chavany e Marie, em 1926, que re l a t a r a m q u a d ro de diplegia facioglossofaringo-mastigatória conseqüente a acidente vascular cerebral bi-lateral ao redor da fissura de Sylvius.…”

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Síndrome peri-sylviana: estudo de uma família brasileira com ênfase na modalidade de transmissão genética e espectro clínico

Herrera

Brandão-Almeida

Guimarães

et al. 2005

Arq. Neuro-Psiquiatr.

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RESUMO -Síndrome peri-sylviana (SP) refere-se a diversas manifestações clínicas que podem acompanhar lesões que comprometem a região peri-sylviana ou operc u l a r, podendo ser adquirida, como em acidentes vasc u l a res cerebrais ou encefalites virais, ou ser congênita. A SP congênita pode se manifestar com grande variação clínica e em idades precoces. Com o advento da ressonância magnética (RM) foi possível observar a presença de polimicrogiria (PMG) na região da fissura de Sylvius em diversos pacientes com quadro clínico de S P. O objetivo do presente estudo é analisar e divulgar essa entidade raramente diagnosticada por meio da descrição de uma família. A família em questão compõe-se de cinco indivíduos acometidos, sendo o distúrbio de linguagem a manifestação mais prevalente, ou seja, presente em todos eles. Epilepsia, déficit motor e sinais pseudobulbares (como sialorréia) foram evidenciados no paciente que mostrou maior alteração à RM (PMG difusa). A paciente com PMG parietal posterior e os outros três com RM normais tiveram manifestações clínicas mais sutis. Apesar da maioria das famílias descritas até o momento apre s e n t a r transmissão ligada ao cromossomo X, a nossa família sugere transmissão autossômica dominante, já que dois meninos afetados são filhos de homens também acometidos. Os nossos dados reforçam a idéia de que a SP apresenta heterogeneidade genética. PALAVRAS-CHAVE: síndrome peri-sylviana, polimicrogiria, sinais pseudobulbares.Perisylvian syndrome: re p o rt of one Brazilian family with focus on the genetic mode of inheritance and clinical spectru m ABSTRACT -Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cere b rovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to re p o rtone family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disord e r. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most re p o rted families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented.KEY WORDS: perisylvian syndrome, polymicrogyria, pseudobulbar sign. S í n d rome peri-sylviana (SP) ou opercular re f e rese a diversas manifestações clínicas que podem a c o mpanhar lesões que comprometem a região peri-sylviana ou operc u l a r 1 . A primeira descrição de quadro clínico correlacionado com lesão peri-sylviana foi de Foix, Chavany e Marie, em 1926, que re l a t a r a m q u a d ro de diplegia facioglos...

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“…Guerreiro et al 29 observed that language disorder may be associated with PMG. The authors described a mild form of posterior parietal PMG where the abnormal cortex extends around a continuum of the Sylvian fissure in patients with language disorder 30 .…”

Section: Malformations Due To Abnormal Cortical Organization Polymicrmentioning

confidence: 99%

Malformations of cortical development

Guerreiro

2009

Arq. Neuro-Psiquiatr.

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-Malformations of cortical development (MCD) have been increasingly identified. The purpose of this presentation is to review the current knowledge of the MCD. Before we address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD. Finally, the last part of this presentation will address the correlation between MCD and epilepsy.KEY WORDS: malformations of cortical development, focal cortical dysplasias, neuronal migration disorders, cortical organization disorders. Malformações do desenvolvimento corticalResumo -As malformações do desenvolvimento cortical (MDC) são cada vez mais identificadas e diagnosticadas. O propósito desta apresentação é rever o conhecimento recente sobre as MDC. Antes de abordarmos o assunto em questão, apresentaremos brevemente uma revisão sobre a formação cortical. A seguir, abordaremos as principais entidades compreendidas dentro da classificação das MDC e, finalmente, resumiremos a correlação entre MDC e epilepsia.PALAVRAS-CHAVE: malformações do desenvolvimento cortical, displasias corticais focais, distúrbios da migração neuronal, distúrbios da organização cortical. Malformations of cortical development (MCD) have been increasingly identified as a major cause of several disorders, particularly in childhood. Patients with MCD present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. The advent of the magnetic resonance imaging (MRI) has been the most important factor in the improvement of the diagnosis, which has allowed a better clinical management. Structural imaging has become more sensitive with developments of MRI hardware, acquisition and postprocessing methods.The purpose of this presentation is to review the current knowledge of MCD. Before we address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD. Finally, the last part of this presentation will address the correlation between MCD and epilepsy. Barkovich et al. 1 proposed a classification of the malformations of cortical development, taking into account pathological, genetic and neuroimaging features of the different stages of development. They state that there are three main consecutive stages of cortical development, each of them partially overlapping with the previous stage. They are: cellular proliferation and differentiation, neuronal migration, and cortical organization. CORTICAL DEVELOPMENTThe first step of cortical development is cellular proliferation and differentiation, which takes place between the 5 th week and 20 th week of gestation. The germinal or primordial cell multiplies and differentiates becoming either a neuron or glial cell. A general rule of the developing nervous system is that a cell is generated in a different location from its final position in the central nervous system (CNS). The process of changing position from birth ...

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Developmental language disorder associated with polymicrogyria

Cited by 67 publications

References 19 publications

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

Síndrome peri-sylviana: estudo de uma família brasileira com ênfase na modalidade de transmissão genética e espectro clínico

Malformations of cortical development

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