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Published online before print September 28, 2005, doi:10.1212/01.wnl.0000183747.05269.2d)
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 Volume 65, Number 12, December 27, 2005
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NEUROLOGY 2005;65:1873-1887
© 2005 American Academy of Neurology
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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

From the Departments of Radiology (Neuroradiology) (Dr. Barkovich), University of California, San Francisco; NYU Comprehensive Epilepsy Center (Dr. Kuzniecky), Department of Neurology, New York University, New York; Brain Research Institute and Austin and Repatriation Medical Centre (Dr. Jackson), University of Melbourne, Australia; Developmental Neuroscience Department (Dr. Guerrini), University of Pisa, and IRCCS Stella Maris Institute (Dr. Guerrini), Pisa, Italy; and Departments of Human Genetics, Neurology, and Pediatrics (Dr. Dobyns), University of Chicago, IL.

Address correspondence and reprint requests to Dr Barkovich, 505 Parnassus Avenue, L-371, San Francisco, CA 94143-0628; e-mail: jim.barkovich{at}radiology.ucsf.edu

Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic 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, known pathologic 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 than phenotype, 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 also included. 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 pathology-based classifications.

This article was previously published in electronic format as an Expedited E-Pub on September 28, 2005, at www.neurology.org.

Disclosure: The authors report no conflicts of interest.

Received June 15, 2005. Accepted in final form August 17, 2005.




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