Agenesis of the corpus callosum: female monozygotic triplets

Ruge, John R.; Newland, T. Simone

doi:10.3171/jns.1996.85.1.0152

Cited by 6 publications

(6 citation statements)

References 10 publications

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“…The outcome of development is inherently variable, as evidenced by physical differences between isogenic organisms, including monozygotic twins, or even between the two sides of nominally symmetrical organisms (Leamy and Klingenberg, 2005). Such differences are also observed at the neuroanatomical level, as in agenesis of the corpus callosum, for example, where this structure may be absent in one twin and present in the other (Mitchell, 2007;Ruge and Newland, 1996;Wahlsten, 1989). On a finer scale, the effects of many mutations are played out at a cellular level in a probabilistic fashion across the developing brain, so that the pattern of abnormalities may vary widely from one brain to the next (as with mutations causing cortical heterotopia, to take an obvious example).…”

Section: Non--genetic Sources Of Variancementioning

confidence: 99%

The genetic architecture of neurodevelopmental disorders

Mitchell¹

2014

Preprint

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Neurodevelopmental disorders include rare conditions caused by identified single mutations, such as Fragile X, Down and Angelman syndromes, and much more common clinical categories such as autism, epilepsy and schizophrenia.These common conditions are all highly heritable but their genetics is considered to be "complex". In fact, this sharp dichotomy in genetic architecture between rare and common disorders may be largely artificial. On the one hand, much of the apparent complexity in the genetics of common disorders may derive from underlying genetic heterogeneity, which has remained obscure until recently. On the other hand, even for supposedly Mendelian conditions, the relationship between single mutations and clinical phenotypes is rarely simple.The categories of monogenic and complex disorders may therefore merge across a continuum, with some mutations being strongly associated with specific syndromes and others having a more variable outcome, modified by the presence of additional genetic variants.

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Section: Non--genetic Sources Of Variancementioning

confidence: 99%

The genetic architecture of neurodevelopmental disorders

Mitchell¹

2014

Preprint

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“…8 It also forms part of the Aicardi, Andermann,9 and Apert10 syndromes. Causes include genetic abnormalities,11 12 particularly trisomies 8, 13, and 18 and there also exist X-linked forms 13. Metabolic disturbances,14 maternal substance misuse,15and maternal influenza16 have also been implicated.…”

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confidence: 99%

Agenesis of the corpus callosum: a United Kingdom series of 56 cases

Taylor

David²

1998

Journal of Neurology, Neurosurgery & Psychiatry

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A survey of cases of agenesis of the corpus callosum was carried out to examine its associations, utilising the British Neurological Surveillance Unit (BNSU). Fifty six cases were reported (36 male), 37 were adults. Nearly two thirds had epilepsy; half of the adult cases had intellectual impairment as estimated clinically, and a third a psychiatric disorder. Nine cases (five adults) were apparently normal neurologically, and may have escaped detection but for a coincidental or minor disorder leading to neurological investigation. The BNSU is a valuable aid in the study of rare disorders but in less severe conditions, such methods of ascertainment inevitably underestimate prevalence and are prone to selection bias towards patients with associated morbidity. (J Neurol Neurosurg Psychiatry 1998;64:131-134)

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“…It may be either complete or partial. Many theories have been postulated to explain ACC [5]. Failure of the anterior neuropore to close may lead to absence of the lamina terminalis and the commissural plate, and later the development of ACC.…”

Section: Introductionmentioning

confidence: 99%

Outcome in Prenatally Diagnosed Fetal Agenesis of the Corpus callosum

Goodyear¹,

Bannister²,

Russell³

et al. 2001

Fetal Diagn Ther

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This study of the outcome and prognostic factors in prenatally diagnosed agenesis of the corpus callosum (ACC) was undertaken to see if there are any differences between subgroups, what relationship they have to neurodevelopmental outcome and whether this information aids the counselling of parents of fetuses with the condition. The outcome of 14 prenatally diagnosed fetuses with ACC and 61 postnatally diagnosed patients was assessed in terms of clinical problems, developmental milestones and neurological signs; each patient was then given a score out of 10, 0 being a normal outcome and 10 being the worst outcome, i.e. death or termination of pregnancy. Comparing patients diagnosed pre- and postnatally, several similarities were found indicating that the postnatal group can provide useful information about the prenatal group. There was a higher incidence of ACC in males than females. In the prenatally diagnosed patients complete ACC was more common than partial ACC, although this might be because partial ACC was easily missed. Complete ACC has a worse prognosis than partial ACC (p = 0.001), and when associated with other anomalies, especially of the central nervous system, the outcome is very bad (p < 0.01). The only neurodevelopmentally normal patients were in the isolated partial ACC group. This study highlights the need to perform a detailed review of fetal anatomy and the desirability of determining the karyotype of the fetus in all newly diagnosed cases of ACC so that as much information as possible is available before parents are counselled about the likely outcome.

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Agenesis of the corpus callosum: female monozygotic triplets

Cited by 6 publications

References 10 publications

The genetic architecture of neurodevelopmental disorders

The genetic architecture of neurodevelopmental disorders

Agenesis of the corpus callosum: a United Kingdom series of 56 cases

Outcome in Prenatally Diagnosed Fetal Agenesis of the Corpus callosum

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