Clinicopathological Findings Associated with Agenesis of the Corpus Callosum

Jeret, Joseph S.; Serur, David; Wisniewski, Krystyna E.; Lubin, Robert

doi:10.1016/s0387-7604(87)80042-6

Cited by 151 publications

(121 citation statements)

References 122 publications

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“…This is in agreement with findings in prior studies showing that the presence of additional brain abnormalities imparts a worse prognosis. [6][7][8][11][12][13][14][15] Interestingly, we did observe sulcation delay in many patients, including those with a good neurodevelopmental outcome, which suggests that the sulcation delay is actually a manifestation of the white matter dysgenesis that likely occurs in ACC, rather than a separate or additional abnormality. Longer term neurodevelopmental studies, however, are needed in these patients because developmental delays have been observed in children with prenatally diagnosed isolated ACC 7,10,12,34,35 and may not be detected until school age.…”

Section: Discussionmentioning

confidence: 99%

“…[4][5][6][7][8][9][10] Although the prognostic implications of prenatally detected ACC are not fully understood, evidence suggests that the presence of additional brain abnormalities imparts a worse prognosis. [6][7][8][11][12][13][14][15] We chose to review our experience with cases of ACC and compare them with postnatal cohorts with ACC, to identify associated fetal brain abnormalities that may give insight into the etiology and outcome.…”

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confidence: 99%

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Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

129

102

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BACKGROUND AND PURPOSE:Anomalies associated with callosal agenesis (ACC) found postnatally have been well documented. However, to our knowledge, no detailed MR imaging analysis of associated anomalies has been reported in a large cohort of fetuses with ACC. This study will assess those anomalies and compare them with postnatal cohorts of ACC, to identify associated fetal brain abnormalities that may give insight into etiology and outcome.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

129

102

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show abstract

“…The most common phenotype is that the axons arrive at the midline but are unable to cross and swirl into longitudinal neuromas called Probst bundles. In humans, agenesis of the corpus callosum (ACC) is always associated with four syndromes: Aicardi, acrocallosal, Andermann and Shapiro syndromes (2). Interestingly ACC with the formation of Probst bundles has also been seen in mice in which specific genes are mutated (see Table 1; Refs.…”

Section: Agenesis Of the Corpus Callosummentioning

confidence: 99%

Axonal pathfinding mechanisms at the cortical midline and in the development of the corpus callosum

2002

Braz J Med Biol Res

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The corpus callosum is a large fiber tract that connects neurons in the right and left cerebral hemispheres. Agenesis of the corpus callosum (ACC) is associated with a large number of human syndromes but little is known about why ACC occurs. In most cases of ACC, callosal axons are able to grow toward the midline but are unable to cross it, continuing to grow into large swirls of axons known as Probst bundles. This phenotype suggests that in some cases ACC may be due to defects in axonal guidance at the midline. General guidance mechanisms that influence the development of axons include chemoattraction and chemorepulsion, presented by either membrane-bound or diffusible molecules. These molecules are not only expressed by the final target but by intermediate targets along the pathway, and by pioneering axons that act as guides for later arriving axons. Midline glial populations are important intermediate targets for commissural axons in the spinal cord and brain, including the corpus callosum. The role of midline glial populations and pioneering axons in the formation of the corpus callosum are discussed. Finally the differential guidance of the ipsilaterally projecting perforating pathway and the contralaterally projecting corpus callosum is addressed. Development of the corpus callosum involves the coordination of a number of different guidance mechanisms and the probable involvement of a large number of molecules.

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“…In addition to providing interhemispheric communication, it also plays a critical role in the development of the visual system (Elberger 1993;1994a;. Children exposed to alcohol prenatally have been shown to have defects in the gross morphology of the CC, including a reduction in size (Clarren, 1986;Mattson et al, 1992;Mattson et al, 1994;Riley et al, 1995) or complete absence (Jones and Smith, 1975;Peiffer et al, 1979;Wisniewski et al, 1983;Jeret et al, 1987;Mattson et al, 1992;Riley et al, 1995). Fetal alcohol exposure has also been linked to a myriad of visual system deficits, including reduced visual acuity, nearsightedness, eye misalignment and optic nerve hypoplasia, (Pinazo-Duran et al, 1997;Stromland and Pinazo-Duran 2002;Stromland, 2004), suggesting a possible role for the CC in these defects.…”

Section: Introductionmentioning

confidence: 99%

Alcohol exposure during the first two trimesters-equivalent alters the development of corpus callosum projection neurons in the rat

Livy

Elberger

2008

Alcohol

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Children exposed prenatally to alcohol can display a variety of neural deficits, including an altered development of the corpus callosum (CC), the largest interhemispheric axon pathway in the brain. Furthermore, these children show functional abnormalities that are related to brain regions with significant numbers of CC connections. Little is known about how alcohol imparts influence on CC development, but one possible mechanism is by affecting the corpus callosum projection neurons (CCpn) directly. The purpose of this study was to quantify the effects of prenatal alcohol exposure on the number, size and distribution of CCpn within the visual cortex. The visual cortex was selected specifically due to the many vision-related deficits noted in fetal alcohol exposed children and because the critical role of the CC in visual cortex development is well documented. Sprague-Dawley rat pups received one of four alcohol dosages during gestational days (G) 1-20, or reared as nutritional or untreated control animals. Each litter was categorized according to the peak blood alcohol concentration (BAC) experienced. Pups were removed from each litter on days equivalent to G29, G36, G43, and G50, for histology and measurement. Callosal axons were labelled retrogradely to their CCpn using DiI and the CCpn were then examined using confocal laser scanning microscopy. Differences between alcohol-exposed and control animals were observed in CCpn cell body size, number, and location with the cortex. This was particularly true of animals exposed to high doses of alcohol. In addition, some trends of CCpn development were found to be unchanged as a result of prenatal alcohol exposure. The results demonstrate clear differences in the development of CCpn in the visual cortex between alcohol-exposed and control animals and suggest that this development is particularly affected in those animals exposed to high doses of alcohol.

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Clinicopathological Findings Associated with Agenesis of the Corpus Callosum

Cited by 151 publications

References 122 publications

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Axonal pathfinding mechanisms at the cortical midline and in the development of the corpus callosum

Alcohol exposure during the first two trimesters-equivalent alters the development of corpus callosum projection neurons in the rat

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