Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study

Barnea-Goraly, Naama; Menon, Vinod; Krasnow, Ben; Ko, Alex C.‐T.; Reiss, Allan L.; Eliez, Stéphan

doi:10.1176/appi.ajp.160.10.1863

Cited by 122 publications

(102 citation statements)

References 39 publications

(52 reference statements)

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“…Starting with the visuo-spatial processing network (VSPN), increased activation in the medial parietal lobe is indicative of atypical connectivity involving the left precuneus and posterior cingulate regions. In light of previous structural MRI findings reporting that poor arithmetic abilities in 22q11DS correlate with reduced fractional anisotropy values, particularly on the left parietal tracts (Barnea-Goraly et al, 2003, the increased activity we observed in the VSPN may be interpreted as the signature of functional dysconnectivity in the dorsal "where" stream, often hypothesized to underlie the characteristic visuo-spatial dysfunctions in children with 22q11DS (Lajiness-O'Neill et al, 2005;Van Aken et al, 2009). Consistently, parietal lobe gray matter volumes are often found to be reduced in children with 22q11DS (Eliez et al, 2000;Kates et al, 2001), and a recent report suggests that gyrification in the precuneus/PCC regions is more affected in children with 22q11DS as a result of congenital heart defects associated with this deletion syndrome (Schaer et al, 2009b).…”

Section: Discussionsupporting

confidence: 65%

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Debbané

Lazouret

Lagioia

et al. 2012

Schizophrenia Research

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Atypical functional connectivity in the maturing brains of 22q11.2 deletion syndrome (22q11DS) may contribute to the expression of early psychotic symptoms commonly reported by these youths. This study's objective was to examine functional connectivity in cerebral networks at rest (Resting-State Networks; RSNs) and their relationship to symptomatic and neuropsychological characteristics putting them at very high risk factor for developing psychosis. Twenty-seven adolescents with 22q11DS and 33 typically developing control adolescents matched for age, gender and handedness underwent an 8-minute resting state functional MRI session. RSNs identification procedure employed Independent Component Analysis (ICA). We tested for potential group differences in functional connectivity within-networks. Then, we examined relationships between network connectivity and symptomatic/neuropsychological characteristics in the 22q11DS group. A total of nine resting-state networks were identified. Between-group differences suggested both increased and decreased functional connectivity in the 22q11DS group, involving the default-mode, sensorimotor, visuo-spatial, and high level visual networks. Finally, atypical connectivity in the default-mode network, specifically within the left superior frontal gyrus region, correlated with prodromal symptom intensity and neuropsychological performances in the 22q11DS group. The results suggest that atypical functional connectivity may sustain both increased vulnerability to psychosis and characteristic cognitive impairments in 22q11DS.

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Section: Discussionsupporting

confidence: 65%

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Debbané

Lazouret

Lagioia

et al. 2012

Schizophrenia Research

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“…Reduced white matter volume in the right cerebellum (Eliez et al 2000) and bilateral frontal, parietal and temporal regions and the external capsules as well as increased fractional anisotropy in posterior brain regions were also reported (Kates et al 2001(Kates et al , 2004van Amelsvoort et al 2001van Amelsvoort et al , 2004Barnea-Goraly et al 2003;Simon et al 2005). Simon et al (2005) suggested that increased fractional anisotropy in the posterior brain regions may be indicative of corpus callosum displacement due to enlarged cerebral ventricles in individuals with 22q11DS.…”

Section: Brain Morphology In 22q11ds Casesmentioning

confidence: 91%

Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia

Arinami

2006

J Hum Genet

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Schizophrenia is a severe, debilitating mental disorder characterized by profound disturbances of cognition, emotion and social functioning. The lifetime morbid risk is surprisingly uniform at slightly less than 1% across different populations and different cultures. The evidence of genetic risk factors is our strongest clue to the cause of schizophrenia. Linkage and association analyses have identified genes associated with the development of schizophrenia. However, most of the alleles or haplotypes identified thus far have only a weak association or are reported to be population specific. A deletion of 22q11.2 that causes the most common microdeletion syndrome (22q11DS) with an estimated prevalence of 1:2,500-1:4,000 live births may represent one of the greatest known genetic risk factors for schizophrenia. Schizophrenia is a late manifestation in approximately 30% of patients with 22q11.2 deletion, comparable to the risk to offspring of two parents with schizophrenia. Clinical and neuroimaging assessments indicate that 22q11DS-schizophrenia is a neurodevelopmental model of schizophrenia. Recent studies have provided evidence that haploinsufficiency of TBX1 is likely to be responsible for many of the physical features associated with the deletion. Most of the genes in the 22q11 deletion region are conserved together on mouse chromosome 16, enabling the generation of mouse models. Similarities in the cardiovascular and other phenotypes between 22q11DS patients and mouse models can provide important insights into roles of genes in neurobehavioral phenotypes. Because more than one gene in the 22q11DS region is likely to contribute to the marked risk for schizophrenia, further extensive studies are necessary. Analyses of 22q11DS will help clarify the molecular pathogenesis of schizophrenia.

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“…149 Moreover, myelination of the prefrontal cortex has been observed to occur in late adolescence and early adulthood, which is typically the age of onset of schizophrenia, 7,118,123 providing an indication of the importance of myelination for the continued maturation and normal functioning of the brain and the role of dysmyelination for the pathological pathways of the disorder.…”

Section: Further Evidence For the Role Of Oligodendrocytes And Myelinmentioning

confidence: 99%

The myelin-pathogenesis puzzle in schizophrenia: a literature review

2007

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Schizophrenia is a serious and disabling mental disorder with symptoms such as auditory hallucinations, disordered thinking and delusions, avolition, anhedonia, blunted affect and apathy. In this review article we seek to present the current scientific findings from linkage studies and susceptible genes and the pathophysiology of white matter in schizophrenia. The article has been reviewed in two parts. The first part deals with the linkage studies and susceptible genes in schizophrenia in order to have a clear-cut picture of the involvement of chromosomes and their genes in schizophrenia. The genetic linkage results seem to be replicated in some cases but in others are not. From these results, we cannot draw a fine map to a single locus or gene, leading to the conclusion that schizophrenia is not caused by a single factor/gene. In the second part of the article we present the oligodendrocyte-related genes that are associated with schizophrenia, as we hypothesize a potential role of oligodendrocyte-related genes in the pathology of the disorder.

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Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study

Cited by 122 publications

References 39 publications

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia

The myelin-pathogenesis puzzle in schizophrenia: a literature review

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