Genetic and neuroradiological heterogeneity of double cortex syndrome

Joseph G. Gleeson, Robert F. Luo, P. Ellen Grant, Renzo Guerrini, Peter R. Huttenlocher, Michel J. Berg, Stefano Ricci, Raffaella Cusmai, James W. Wheless, Samuel Berkovic, Ingrid Scheffer, William B. Dobyns, Christopher A. Walsh

Research output: Contribution to journalArticlepeer-review

89 Scopus citations


Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups- anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.

Original languageEnglish (US)
Pages (from-to)265-269
Number of pages5
JournalAnnals of Neurology
Issue number2
StatePublished - 2000
Externally publishedYes


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