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MeSH Review:

Nervous System Malformations

Amiel, J. et al., Mankes, R.F. et al., Carpenter, S.J., Viirre, E. et al., Xu, Y. et al., et al.

Amiel, Trochet, Clément-Ziza, Munnich, Lyonnet,

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Disease relevance of Nervous System Malformations

Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies [1].
Malformations such as hydronephrosis, pelvic kidney, microcephalus, cranioschisis, and microphthalmia occurred in 72-100% of the ethanol treated offspring, as compared to 12% of controls [2].

High impact information on Nervous System Malformations

Neuropathological studies have continued to refine our knowledge of the nervous system abnormalities that characterize TSC [3].
We examined the sequence of nervous system abnormalities that resulted when rats were given excess amounts of vitamin B6 (pyridoxine) [4].
In less severely afflicted early embryos, the cephalic neural folds had elevated and met in the dorsal midline but had only incompletely fused, i.e., cranioschisis occulta [5].
Exposure of the mammalian fetus to ethanol causes a variety of nervous system abnormalities, but the evidence relating to seizure susceptibility is contradictory [6].

References

Polyalanine expansions in human. Amiel, J., Trochet, D., Clément-Ziza, M., Munnich, A., Lyonnet, S. Hum. Mol. Genet. (2004) [Pubmed]
Acute embryopathic effects of ethanol in the Long-Evans rat. Mankes, R.F., Hoffman, T., LeFevre, R., Bates, H., Abraham, R. Journal of toxicology and environmental health. (1983) [Pubmed]
Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex. Short, M.P., Richardson, E.P., Haines, J.L., Kwiatkowski, D.J. Brain Pathol. (1995) [Pubmed]
Dose-dependent expression of neuronopathy after experimental pyridoxine intoxication. Xu, Y., Sladky, J.T., Brown, M.J. Neurology (1989) [Pubmed]
Developmental analysis of cephalic axial dysraphic disorders in arsenic-treated hamster embryos. Carpenter, S.J. Anat. Embryol. (1987) [Pubmed]
Prenatal ethanol exposure alters rat brain morphology but does not affect amygdaloid kindling. Viirre, E., Cain, D.P., Ossenkopp, K.P. Neurobehavioral toxicology and teratology. (1986) [Pubmed]

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