Cognition and behaviour in neurofibromatosis type 1: Pathogenesis and emerging therapies

Abstract

This chapter provides an overview of the neurocognitive, behavioral and developmental aspects of the neurofibromatosis type 1 (NF1) phenotype. Investigationsinto the pathogenesis of cognitive dysfunction are also presented, with a focus on humanneuroimaging studies and mouse models. These studies have provided major insights intothe molecular and biochemical abnormalities associated with NF1 that impact oncognitive performance. Preclinical studies suggest that pharmacological correction ofthese abnormalities has the potential to normalize aspects of the NF1 cognitivephenotype. These are reviewed along with the rationale for ongoing and future humanclinical trials. © 2013 by Nova Science Publ..