Clasificacion Genetica y De Desarrollo De Las Malformaciones Corticale
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The online version of this article, along with updated information andservices, is located on the World Wide Web at: http://www.neurology.org/cgi/content/full/65/12/1873
Neurology® is the official journal of the American Academy of Neurology. Published continuously since 1951, it is now a weekly with 48 issues per year. Copyright © 2005 by AAN Enterprises, Inc. All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X.
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A developmental and genetic classification for malformations of cortical development
A.J. Barkovich, MD; R.I. Kuzniecky, MD; G.D. Jackson, MD; R. Guerrini, MD; and W.B. Dobyns, MD
Abstract—Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecularbiologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the understanding of these disorders. The authors propose a revised classification based on the stage of development (cell proliferation, neuronal migration, cortical organization) at which cortical development was first affected. The categories are based on known developmental steps, knownpathologic features, known genetics (when possible), and, when necessary, neuroimaging features. In those cases in which the precise developmental and genetic features are uncertain, classification is based on known relationships among the genetics, pathologic features, and neuroimaging features. The major change since the prior classification has been a shift to using genotype, rather thanphenotype, as the basis for classifying disorders wherever the genotype–phenotype relationship is adequately understood. Other substantial changes include more detailed classification of congenital microcephalies, particularly those in which the genes have been mapped or identified, and revised classification of congenital muscular dystrophies and polymicrogyrias. Information on genetic testing is alsoincluded. This classification allows a better conceptual understanding of the disorders, and the use of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathologybased classifications.
NEUROLOGY 2005;65:1873–1887
Malformations of cortical development are more common than was recognized in the era before MRI and the recent increasein the treatment of neocortical epilepsy by surgery.1-3 They are common causes of epilepsy and developmental delay.4 They are important in the study of developmental neuroscience, as an understanding of the causative genes and their protein products gives insights into the processes of cerebral cortical development. In 1996, a classification scheme for malformations of cortical development,based on the first developmental step (cell proliferation, neuronal migration, cortical organization) at which the developmental process was disturbed, was proposed;5 this classification was updated in 2001.6 At that time, the authors noted that the classification was not final, but that it provided a framework for classification of both known and as yet undescribed malformations and that it wouldcontinue to be modified as our knowl-
edge advanced. This classification system has proved useful in helping those physicians who diagnose and treat patients with malformations of cortical development and has been adopted by many individuals in the field. At the time of the 2001 revision, it was noted that substantial new information had accumulated concerning both normal and abnormal cortical...
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