Lateral ventricular asymmetry in migraine patients: a clinical and neuroimaging study

Institutul Neurologie şi Neurochirurgie, Laboratorul Neurologie FuncţionalăAsymmetry of the brain ventricles is a common radiologic finding. The purpose of this study was to evaluate the association of lateral ventricles asymmetry (LVA) with chronic migraine (CM) and to assess its clinical importance. We analyzed 113 consecutive CM patients who underwent a 1,5T MRI examination. Clinical data were collected and analyzed. The degree of ventricular asymmetry was classified as being minimal (control group), mild, moderate or severe. According to the results of the current study, lateral ventricles asymmetry could be considered as a factor for migraine severity. Asimetria ventriculilor laterali (AVL) se întâlneşte frecvent în practica neuroradiologică. Scopul acestui studiu a fost de a evalua asocierea AVL cu migrena cronică (MC) şi determinarea importanţei clinice a acesteia. În cercetare au fost incluşi 113 pacienţi consecutivi cu MC examinaţi prin IRM cerebrală 1,5T. AVL a fost clasificată în patru grade: AVL minimală (grupul de control), uşoară, moderată şi severă. Prevalenţa asimetriei ventriculare semnificative (moderate şi severe) în populaţia studiată a constituit 22%. S-a constatat o durată a bolii mai lungă, o frecvenţă şi o severitate a acceselor migrenoase mai mare la pacienţii cu asimetrie ventriculară semnificativă

Synaptische Plastizität, Schizophrenie-Risiko und Hirnstruktur: eine MR-morphometrische Assoziationsstudie

Ein erheblicher Anteil des genetischen Risikos für die Entwicklung einer Schizophrenie ist durch den Effekt von Einzelnukleotidpolymorphismen (single neucleotide polymorphisms, SNPs) vermittelt, wobei neuere genomweite Assoziationsstudien (GWAS) eine große Anzahl von Genen auf insgesamt über 100 Genloci identifiziert haben, welche zu diesem Risiko beitragen (Schizophrenia Working Group of the Psychiatric Genomics Consortium, Nature 2014). In diesen Studien wurde ein Gruppe von Genen identifiziert, welche Einfluß auf synaptische Funktion und Plastizität bei Neuronen aufweist und somit die Plastizität bzw. neuronale Signalübertragung beeinflussen. In der vorliegenden Studie soll ausgehend von obiger GWAS-Studie, welche die bisher international größten Kohorten schizophren erkrankter Patienten und gesunder Kontrollen verglichen hat, diese Gruppe von Genen in ihrem Einfluß auf die Hirnstruktur gesunder Probanden untersucht werden. Dabei soll die Hypothese geprüft werden, dass auch bei Gesunden diese SNPs die Hirnstruktur in Arealen beeinflussen, welche bei der Schizophrenie verändert sind, insbesondere im Präfrontalcortex (dorsolateral, sowie medial / anterior cingulärer Cortex), lateralen temporal Cortex und Hippocampus. Diese Hypothese soll an hochauflösenden T1-gewichteten MRT-Aufnahmen (MPRAGE) von 200 gesunden Personen (ohne psychiatrische Vorerkrankung und ohne erstgradig Verwandte mit psychotischen Störungen) untersucht werden, unter Verwendung der voxel-basierten Morphometrie (VBM) und oberflächenbasierter Morphomerie (Gyrifizierung), welche in der CAT12-Toolbox implementiert sind. Als Nebenhypothese soll der Effekte in einer case-control-Kohorte mit Schizophrenie-Patienten und alters- und geschlechtsparallelisierten gesunden Kontrollen nachuntersucht werden. Somit soll die Arbeit untersuchen, auf welche einzelnen Hirnregionen sich die in den Pathway-PGRS zusammengefassten einzelnen Risikogene strukturell niederschlagen

Genética e neuroimagem no TDAH e fenótipos relacionados

O Transtorno de Déficit de Atenção/Hiperatividade (TDAH) é altamente prevalente e leva a prejuízos em diversos domínios. Compreender mais sobre sua etiologia pode romper estigmas que o acompanham e fornecer novas perspectivas para o tratamento. Avanços genéticos recentes têm contribuído substancialmente para isso, embora a maioria dos fatores genéticos envolvidos permaneça desconhecida. Endofenótipos, como aspectos de neuroimagem, constituem em uma estratégia promissora na compreensão da fisiopatologia e da arquitetura genética de transtornos psiquiátricos. Nesse sentido, a presente Tese busca compreender aspectos de neuroimagem e genética do TDAH na vida adulta através de métodos estruturais de ressonância magnética utilizando desde métodos clássicos, abordagens data-driven e técnicas de difusão (conectividade estrutural). Além disso, a Tese explora variantes genéticas envolvidas no TDAH e outros fenótipos relacionados por meio de abordagens single-SNP e gene-wide além de escores de risco poligênico. A Tese inclui ainda dados clínicos de estudo de seguimento em TDAH em adultos, procurando relacionar diferentes desfechos a bases biológicas. O conjunto geral de resultados contribui na compreensão da neurobiologia do TDAH, demonstrando, por exemplo, associações entre regiões fronto-estriatais e tratos de substância branca e o TDAH em duas amostras independentes. Além disso, utilizando abordagens mais clássicas, estendemos para adultos associações já robustamente demonstradas em crianças entre o TDAH e volumes subcorticais e áreas corticais. A presente Tese também mostra em uma abordagem gene-wide a associação de uma variante do gene da Synaptotagmina com a integridade estrutural da substância branca, além da associação de uma variante específica com o Transtorno por Uso de Crack. Dada a alta complexidade do fenótipo TDAH, a presente Tese é parte do início dos esforços científicos no sentido de uma avaliação integrada das bases genéticas e neurobiológicas do transtorno.The Attention-Deficit Hyperactivity Disorder (ADHD) is highly prevalent and leads to impairment in several domains. The understanding about its etiology can break stigmas and provide new perspectives for treatment. Recent genetic advances have contributed substantially to this, although most of the genetic factors involved remain unknown. Endophenotypes, as neuroimaging features, constitute a promising approach for understanding the pathophysiology and genetic architecture of psychiatric disorders. In this sense, the present Thesis sough to understand neuroimaging and genetics aspects of ADHD in adulthood through structural magnetic resonance imaging, using classical methods, data- driven approaches and diffusion techniques (structural connectivity). In addition, the Thesis explores genetic variants involved in ADHD and other related phenotypes through single-SNP and gene-wide approaches, as well as polygenic risk scores. This Thesis also include clinical follow-up data of adults with ADHD, aiming to investigate biological basis underlying different clinical outcomes. The overall results contributes to the understanding of ADHD neurobiology, demonstrating, for instance, associations between fronto-striatal regions and subjacent white matter tracts and ADHD in two independent samples. Also, using a more classical approach, we have extended into adults previously robustly associations between ADHD and subcortical volumes and cortical areas in children. The present Thesis also shows in a gene-wide approach the association of Synaptotagmin gene variants with structural integrity of the white matter, as well as the association of a specific variant with Crack Use Disorder. Given the high complexity of the ADHD phenotype, this Thesis is part of the beginning of scientific efforts towards an integrated assessment of the genetic and neurobiological basis of the disorder

Stay connected:a family-based diffusion imaging study in psychotic disorder

Changes in the way different regions of the brain communicate with one another is considered to be one of the causes of psychotic disorder. White matter anomalies throughout the brain have been found in patients with psychotic disorder. These anomalies are not found in the brains of the patients' healthy siblings and likely reflects disease-related brain pathology. Over a period of roughly three years, a stabilisation of these white matter anomalies was found in the brains of patients compared to an increase in white matter anomalies in those of healthy siblings. Finally, a link was found between increased white matter deterioration in patients with psychotic disorder and greater exposure to cannabis and youth trauma. Prevention campaigns should focus more attention on the harmful effects of environmental stressors that can increase the risk for developing a psychotic disorder

Геномика поведения: детское развитие и образование

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