Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging

Merlini, Laura; Anooshiravani, Mehrak; Kanavaki, Aikaterini; Hanquinet, Sylviane

doi:10.1007/s00247-014-3242-3

Cited by 3 publications

(2 citation statements)

References 29 publications

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“…Visible cerebellar atrophy on MRI appeared to start by clinical disease onset, progressed over the teenage years and into early adulthood, but then possibly plateaued, consistent with the clinical finding of relative disease stability in adulthood. The observed prominent and occasionally thick corpus callosum across patients suggests this may be an important brain imaging feature of MEAK, perhaps reflecting an underlying axonal guidance abnormality …”

Section: Discussionmentioning

confidence: 97%

“…The observed prominent and occasionally thick corpus callosum across patients suggests this may be an important brain imaging feature of MEAK, perhaps reflecting an underlying axonal guidance abnormality. 30 The majority of MEAK patients were from European countries; this likely reflects ascertainment bias. There was no geographical clustering as is seen in other PMEs, such as ULD and North Sea PME, which follow recessive inheritance.…”

Section: Discussionmentioning

confidence: 99%

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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

Oliver

Franceschetti

Milligan

et al. 2017

Annals of Neurology

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MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type K 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

Oliver

Franceschetti

Milligan

et al. 2017

Annals of Neurology

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Thick and short Fetal Corpus Callosum On Ultrasound: Added value of Fetal MR Diffusion Tensor Imaging with Tractography

Desai,

Desai

2024

Pediatric Neurology

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Corpus callosum long-term biometry in very preterm children related to cognitive and motor outcomes

Lubián-Gutiérrez,

Benavente-Fernández,

Marín-Almagro

et al. 2024

Pediatr Res

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Background The corpus callosum (CC) is suggested as an indirect biomarker of white matter volume, which is often affected in preterm birth. However, diagnosing mild white matter injury is challenging. Methods We studied 124 children born preterm (mean age: 8.4 ± 1.1 years), using MRI to assess CC measurements and cognitive/motor outcomes based on the Wechsler Intelligence Scale for Children-V (WPPSI-V) and Movement Assessment Battery for Children-2 (MABC-2). Results Children with normal outcomes exhibited greater height (10.2 ± 2.1 mm vs. 9.4 ± 2.3 mm; p = 0.01) and fractional anisotropy at splenium (895[680–1000] vs 860.5[342–1000]) and total CC length (69.1 ± 4.8 mm vs. 67.3 ± 5.1 mm; p = 0.02) compared to those with adverse outcomes. All measured CC areas were smaller in the adverse outcome group. Models incorporating posterior CC measurements demonstrated the highest specificity (83.3% Sp, AUC: 0.65) for predicting neurological outcomes. CC length and splenium height were the only linear measurements associated with manual dexterity and total MABC-2 score while both the latter and genu were related with Full-Scale Intelligence Quotient. Conclusions CC biometry in children born very preterm at school-age is associated with outcomes and exhibits a specific subregion alteration pattern. The posterior CC may serve as an important neurodevelopmental biomarker in very preterm infants. Impact The corpus callosum has the potential to serve as a reliable and easily measurable biomarker of white matter integrity in very preterm children. Estimating diffuse white matter injury in preterm infants using conventional MRI sequences is not always conclusive. The biometry of the posterior part of the corpus callosum is associated with cognitive and certain motor outcomes at school age in children born very preterm. Length and splenium measurements seem to serve as reliable biomarkers for assessing neurological outcomes in this population.

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Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging

Abstract: Thickened corpus callosum was associated with abnormal bundles, suggesting underlying axonal guidance abnormality. DTI metrics suggested abnormal fiber compactness and density, which may be associated with alterations in cognition.

Cited by 3 publications

References 29 publications

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

Thick and short Fetal Corpus Callosum On Ultrasound: Added value of Fetal MR Diffusion Tensor Imaging with Tractography

Corpus callosum long-term biometry in very preterm children related to cognitive and motor outcomes

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Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging

Abstract: Thickened corpus callosum was associated with abnormal bundles, suggesting underlying axonal guidance abnormality. DTI metrics suggested abnormal fiber compactness and density, which may be associated with alterations in cognition.

Cited by 3 publications

References 29 publications

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

Thick and short Fetal Corpus Callosum On Ultrasound: Added value of Fetal MR Diffusion Tensor Imaging with Tractography

Corpus callosum long-term biometry in very preterm children related to cognitive and motor outcomes

Contact Info

Product

Resources

About

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties