Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

Kuker, Wilhelm; Mayrhofer, Heidi; Mader, Irina; Nägele, Thomas; Krägeloh‐Mann, Ingeborg

doi:10.1007/s00330-002-1541-9

Cited by 66 publications

(8 citation statements)

References 10 publications

(9 reference statements)

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“…Hypoplasia is defined as underdevelopment of an organ or tissue. Extending postnatal observations, [29][30][31][32] we were able to demonstrate that the fetal hippocampus in cases of callosal agenesis mostly does not reach an age-appropriate size, even during prenatal life. Thus, the term "underdevelopment" or "hypoplasia" was used to describe the reduction in volume of this archicortical brain structure.…”

Section: Groupssupporting

confidence: 66%

“…28,29 In addition to its abnormal orientation, the HF appears to be hypoplastic in human patients lacking a corpus callosum. [29][30][31][32] According to animal studies, the axonal collaterals of developing hippocampal neurons serve as guideposts for callosal axons while crossing the midline structures on their way to the contralateral hemisphere. 19,33 Hence, abnormal hippocampal development may indirectly influence the proper growth and elongation of callosal fibers.…”

Section: Groupsmentioning

confidence: 99%

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Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study

Knezović

Kasprian

Štajduhar

et al. 2019

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: In subjects with agenesis of the corpus callosum, a variety of structural brain alterations is already present during prenatal life. Quantification of these alterations in fetuses with associated brain or body malformations (corpus callosum agenesis and other related anomalies) and so-called isolated cases may help to optimize the challenging prognostic prenatal assessment of fetuses with corpus callosum agenesis. This fetal MR imaging study aimed to identify differences in the size of the prenatal hippocampus between subjects with isolated corpus callosum agenesis, corpus callosum agenesis and other related anomalies, and healthy controls. MATERIALS AND METHODS: Eighty-five in utero fetal brain MR imaging scans, (20-35 gestational weeks) were postprocessed using a high-resolution algorithm. On the basis of multiplanar T2-TSE sequences, 3D isovoxel datasets were generated, and both hippocampi and the intracranial volume were segmented. RESULTS: Hippocampal volumes increased linearly with gestational weeks in all 3 groups. One-way ANOVA demonstrated differences in hippocampal volumes between control and pathologic groups (isolated corpus callosum agenesis: left, P ϭ .02; right, P ϭ .04; corpus callosum agenesis and other related anomalies: P Ͻ .001). Differences among the pathologic groups were also present for both sides. Intracranial volume and right and left hippocampal volume ratios were different between corpus callosum agenesis cases and controls (P Ͻ .001). When we corrected for intracranial volume, no differences were found between corpus callosum agenesis and other associated anomalies and isolated corpus callosum agenesis (left, P ϭ .77; right, P ϭ .84). Hippocampal size differences were more pronounced at a later gestational age. CONCLUSIONS: Callosal agenesis apparently interferes with the normal process of hippocampal formation and growth, resulting in underdevelopment, which could account for certain learning and memory deficits in individuals with agenesis of the corpus callosum in later life. ABBREVIATIONS: aACC ϭ corpus callosum agenesis and other associated anomalies; ACC ϭ agenesis of the corpus callosum; GW ϭ gestational weeks; HF ϭ hippocampal formation; iACC ϭ isolated agenesis of the corpus callosum; ICV ϭ intracranial volume

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Section: Groupssupporting

confidence: 66%

Section: Groupsmentioning

confidence: 99%

Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study

Knezović

Kasprian

Štajduhar

et al. 2019

AJNR Am J Neuroradiol

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“…ACC describes the partial or complete absence of the CC and is characterized by the failure of callosal axons to cross the midline. Apart from the abnormalities typically expected to be associated with ACC, such as the absence of the hippocampal commissure and cingulate gyrus and dysmorphic lateral ventricles or colpocephaly, individuals with iACC do not present with additional brain abnormalities (Cesaretti et al., ; Kuker, Mayrhofer, Mader, Nagele, & Krageloh‐Mann, ). Individuals with DCC ‐iACC may present with complete iACC (14 out of 19; 74%) or partial iACC (five out of 19; 26%) (Marsh et al., ).…”

Section: Clinical Relevancementioning

confidence: 99%

DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

et al. 2017

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The deleted in colorectal cancer (DCC) gene encodes the netrin‐1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss‐of‐function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss‐of‐function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss‐of‐function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype–phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus‐specific LOVD (https://databases.lovd.nl/shared/genes/DCC).

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“…It has been previously suggested that the clinical heterogeneity of cases with complete agenesis of the corpus callosum could be partially explained by the presence or absence of residual interhemispheric white matter connectivity. 1,2 The objective of this study was to determine the prevalence and sonographic appearance of the hippocampal commissure in fetuses with isolated complete agenesis of the corpus callosum by three-dimensional (3D) neurosonography in the multiplanar mode.…”

Section: Introductionmentioning

confidence: 99%

The hippocampal commissure: a new finding at prenatal 3D ultrasound in fetuses with isolated complete agenesis of the corpus callosum

et al. 2015

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Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

Cited by 66 publications

References 10 publications

Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study

Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study

DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

The hippocampal commissure: a new finding at prenatal 3D ultrasound in fetuses with isolated complete agenesis of the corpus callosum

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