Current Neurology and Neuroscience Reports

, Volume 11, Issue 2, pp 171–178

Molecular Genetics of Neuronal Migration Disorders

Article

DOI: 10.1007/s11910-010-0176-5

Cite this article as:
Liu, J.S. Curr Neurol Neurosci Rep (2011) 11: 171. doi:10.1007/s11910-010-0176-5

Abstract

Cortical malformations associated with defects in neuronal migration result in severe developmental consequences including intractable epilepsy and intellectual disability. Genetic causes of migration defects have been identified with the advent and widespread use of high-resolution MRI and genetic techniques. Thus, the full phenotypic range of these genetic disorders is becoming apparent. Genes that cause lissencephaly, pachygyria, subcortical band heterotopia, and periventricular nodular heterotopias have been defined. Many of these genes are involved in cytoskeletal regulation including the function of microtubules (LIS1, TUBA1A,TUBB3, and DCX) and of actin (FilaminA). Thus, the molecular pathways regulating neuronal migration including the cytoskeletal pathways appear to be defined by human mutation syndromes. Basic science, including cell biology and animal models of these disorders, has informed our understanding of the pathogenesis of neuronal migration disorders and further progress depends on the continued integration of the clinical and basic sciences.

Keywords

Neuronal migration Lissencephaly Periventricular nodular heterotopia Subcortical band heterotopia Pachygyria Polymicrogyria Cobblestone lissencephaly Miller-Dieker syndrome Reelin Doublecortin ARX FilaminA 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Center for Neuroscience ResearchChildren’s National Medical CenterWashingtonUSA

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