A developmental and genetic classification for malformations of cortical development.
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.
Barkovich
A J
AJ
Department of Radiology, University of California, San Francisco, CA, USA. jim.barkovich@radiology.ucsf.edu
Kuzniecky
R I
RI
Jackson
G D
GD
Guerrini
R
R
Dobyns
W B
WB
D002540:Cerebral Cortex / Q000002:abnormalities*; D004252:DNA Mutational Analysis / Q000592:standards; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging / Q000592:standards; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000592:standards; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics