Article
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
Cortex; a journal devoted to the study of the nervous system and behavior - 1 Jan 2016
Passemard Sandrine, Verloes Alain, Billette de Villemeur Thierry, Boespflug-Tanguy Odile, Hernandez Karen, Laurent Marion, Isidor Bertrand, Alberti Corinne, Pouvreau Nathalie, Drunat Séverine, Gérard Bénédicte, El Ghouzzi Vincent, Gallego Jorge, Elmaleh-Bergès Monique, Huttner Wieland B, Eliez Stephan, Gressens Pierre, Schaer Marie
Abstract excerpt
Autosomal recessive primary microcephaly results from abnormal brain development linked to proliferation defects in neural progenitors. The most frequent form, caused by ASPM mutations, is usually defined by a reduced brain volume and is associated with intellectual disability. Although many ASPM cases have now been reported, structural brain abnormalities and their link with cognitive disabilities have rarely...
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