Brain volume in children with neurofibromatosis type 1

Moore, Bartlett D.; Slopis, John M.; Jackson, Edward F.; Winter, A. E. De; Leeds, Norman E.

doi:10.1212/wnl.54.4.914

Cited by 129 publications

(140 citation statements)

References 33 publications

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“…In children with neurofibromatosis type 1, all the subregions of the CC are larger, but the enlargement is negatively correlated with cognition. 43 In Williams syndrome, the CC area is smaller, 44 and in fetal alcohol syndrome, reduced callosal volumes occur and are correlated with poor visual-motor integration. 45 In children with autism, a reduction in volumes of the CC has been reported, with a lack of the age-related positive correlation between age and CC volume.…”

Section: Discussionmentioning

confidence: 99%

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

et al. 2012

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Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with neurocognitive impairments. The neural substrates of cognitive impairments in 22q11DS remain poorly understood. Because the corpus callosum (CC) is found to be abnormal in a variety of neurodevelopmental disorders, we obtained volumetric measurements of the CC and its subregions, examined the relationship between these regions and neurocognition and selected genotypes within candidate genes in the 22q11.2 interval in 59 children with 22q11DS and 53 control subjects. The total CC, splenium and genu were significantly larger in children with 22q11DS and the enlargement was associated with better neurocognitive functioning in the 22q11DS group, suggestive of a compensatory increase in the CC volumes. The expected age-related increase in the volume of the CC was not seen in children with 22q11DS, indicative of dysmaturation of the CC in these children. The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). These findings indicate that alterations in the CC volume in children with 22q11DS are associated with cognition and specific genotypes in the 22q11.2 interval.

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Section: Discussionmentioning

confidence: 99%

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

et al. 2012

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“…The small G protein p21Ras, which is crucially involved in neurotrophic signal transduction pathways, has been implicated as being essential for normal functioning and plasticity of both the developing (Noda et al, 1985;BarSagi and Feramisco, 1985;Guerrero et al, 1986) and the adult (Brambilla et al, 1997;Silva et al, 1997;Moore et al, 2000) nervous system. Furthermore, enhanced expression of p21Ras is associated with neuronal restructuring after lesion or in the context of neurodegenerative diseases (Phillips and Belardo, 1994;Gä rtner et al, 1995Gä rtner et al, , 1999.…”

Section: Discussionmentioning

confidence: 99%

Expression of constitutively active p21H‐ras^val12 in postmitotic pyramidal neurons results in increased dendritic size and complexity

Alpár

Palm

Schierwagen

et al. 2003

J of Comparative Neurology

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The small G protein p21Ras is a critical molecular switch for relaying neurotrophic actions and is essential for normal functioning and plasticity of the nervous system. In this study, the morphogenetic effects of p21Ras were investigated on neurons in vivo. Morphological changes of layers II/III and Vb commissural pyramidal neurons of the primary somatosensory cortex were analyzed in transgenic mice expressing permanently active p21H-RasVal12 in postmitotic neurons. Pyramidal cells were retrogradely labelled with biotinylated dextran amine and subsequently traced using Neurolucida. Compared with wild-type mice, transgenic animals showed a significant increase in the surface area and volume of basal dendrites on the proximal and intermediate segments in layers II/III and on further distal segments in layer V. In addition, the surface area and volume of the trunk and of the proximal segments of oblique branches of apical dendrites were enlarged in both layers. Sholl analyses of basal and apical dendrites showed a significant increase in dendritic complexity of layer V neurons. A positive correlation was observed between the size of the basal dendrite and the neuronal soma size in the transgenic population, indicating that growth-promoting effects of p21H-RasVal12 affect both cellular compartments in parallel. However, the dendritic surface correlated with the number of tips and dendritic stem diameter in both wild-type and transgenic populations, demonstrating that these relations represent rather conservative design principles in dendritic morphology. The data presented here suggest an important role of p21Ras-dependent signaling in the final differentiation and maintenance of dendritic morphology.

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“…This finding has been reported in both autism 41,42 and neurofibromatosis. 43,44 To investigate this suggestion in the current NSCLP sample, a Spearman's correlation (chosen to decrease the influence of outliers) was calculated between volumes of cerebral regions and IQ, controlling for total brain tissue volume. Table 5 shows the correlations and indicates that the anterior cerebral enlargement was pathologic, with significant inverse correlation with Full Scale IQ (FSIQ)-the larger the anterior cerebrum, the lower the IQ.…”

Section: Structure/function Relationshipmentioning

confidence: 99%

Structural brain abnormalities in adult males with clefts of the lip and/or palate

Nopoulos

Berg

Canady

et al. 2002

Genetics in Medicine

123

110

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Purpose: To evaluate brain morphology of adult males with nonsyndromic clefts of the lip and/or palate (NSCLP) in comparison to a matched healthy control group. Methods: Brain structure was measured using quantitative analysis of magnetic resonance images. Results: Subjects with NSCLP had significant abnormalities in brain morphology consisting of abnormally enlarged anterior regions of the cerebrum, and decreased volumes of the posterior cerebrum and cerebellum. Overall, the most severely affected region was the left temporal lobe.Furthermore, these structural abnormalities were directly related to cognitive dysfunction. Conclusions: These findings highlight the important relationship and interplay between face and brain development. Genet Med 2002: 4(1):1-9.

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Brain volume in children with neurofibromatosis type 1

Cited by 129 publications

References 33 publications

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

Expression of constitutively active p21H‐ras^val12 in postmitotic pyramidal neurons results in increased dendritic size and complexity

Structural brain abnormalities in adult males with clefts of the lip and/or palate

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Brain volume in children with neurofibromatosis type 1

Cited by 129 publications

References 33 publications

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

Expression of constitutively active p21H‐rasval12 in postmitotic pyramidal neurons results in increased dendritic size and complexity

Structural brain abnormalities in adult males with clefts of the lip and/or palate

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Expression of constitutively active p21H‐ras^val12 in postmitotic pyramidal neurons results in increased dendritic size and complexity