Disease relevance of Microcephaly

• This in vitro study confirmed previous reports in utero that nicotine leads to growth retardation, and, in addition, demonstrated that development of the nervous system, particularly the forebrain, as well as the branchial arches was impaired, possibly leading to microcephaly and cleft palate respectively in term fetuses [1].
• To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with Seckel syndrome (microcephaly, micrognathia, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis [2].
• Previous work has demonstrated that peptide agonists (SALLRSIPA and NAPVSIPQ) from downstream mediators that are regulated by VIP were able to prevent the alcohol-induced fetal death, growth restriction and microcephaly associated with fetal alcohol syndrome [3].
• This embryopathy is characterized by growth retardation, microcephaly, mental deficiency, and craniofacial malformations, although the precise mechanism(s) by which phenytoin alters normal developmental pathways remains unknown [4].
• The frequency of gross brain abnormalities in live fetus at birth such as hemorrhages, delayed ossification in cranium, hydrocephaly, exencephaly, and microcephaly increased with increasing levels of the drug [5].

Psychiatry related information on Microcephaly

• X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome [6].
• Impaired Biel and radial arm maze learning in rats with methylnitrosourea-induced microcephaly [7].

High impact information on Microcephaly

• Ablation of the LIS1-interacting protein Nde1 (formerly mNudE) in mouse produces a small brain (microcephaly), with the most dramatic reduction affecting the cerebral cortex [8].
• Oncogenic response of rats with x-ray-induced microcephaly to transplacental ethylnitrosourea [9].
• SUMMARY: Congenital microcephaly, seizures and severe psychomotor retardation are symptoms of serine deficiency and can be treated with supplementation of L-serine, sometimes combined with glycine [10].
• However, this does not exclude the possibility that more restricted anterior induction defects may occur in some X-linked microcephalies such as Juberg-Marsidi syndrome resulting in prolonged survival [11].
• Heterotopia in microcephaly induced by cytosine arabinoside: hippocampus in the neocortex [12].

Chemical compound and disease context of Microcephaly

• Severe microcephaly in rat offspring was induced by prenatal exposure to methylazoxymethanol acetate (MAM), an anti-mitotic agent, on day 15 of gestation [13].
• Prenatal cocaine decreases the trophic factor S-100 beta and induced microcephaly: reversal by postnatal 5-HT1A receptor agonist [14].
• The protective effects of vitamin E on microcephaly in rats X-irradiated in utero: DNA, lipid peroxide and confronting cisternae [15].
• Ethanol-induced microcephaly in neonatal rats: relation to dose [16].
• Microcephaly was observed with high frequency in mice by prenatal treatment with ochratoxin A [17].

Biological context of Microcephaly

• Prenatal exposure of pregnant rats to methylazoxymethanol acetate (MAM), an anti-mitotic agent, on day 15 of gestation induces severe microcephaly in the offspring [18].
• The resulting downregulation of cyclin D1 protein resulted in microophthalmia and microcephaly, but not lethality [19].

Anatomical context of Microcephaly

• Injection of the antimitotic drug methylazoxymethanol (MAM) in the pregnant rat at E14 leads in the offsprings to a severe malformation with microcephaly and cortical heterotopiae in the white matter and in the CA1 field of the hippocampus [20].
• In addition, cocaine increased the incidence of neural defects, in the form of open neural tube, hypoplastic prosencephalon, and microcephaly [21].

Gene context of Microcephaly

• Brain malformations were the most predominant; hydrocephalus, hydromicrocephaly and microcephaly appeared in sequence with developmental stages of treatment, although exencephaly occurred infrequently [22].
• Within the heterogeneous group of the microcephalies it seems we can isolate a syndrome consisting of microcephaly, mental retardation, chorioretinal dysplasia and sometimes microphthalmia and embryological remnants such as persistence of the primary vitreous or persistence of its minor forms [23].

References