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

Jonathan M. Payne*, Natalie A. Pride, Kathryn N. North

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Citation (Scopus)

Abstract

This chapter provides an overview of the neurocognitive, behavioral and developmental aspects of the neurofibromatosis type 1 (NF1) phenotype. Investigations into the pathogenesis of cognitive dysfunction are also presented, with a focus on human neuroimaging studies and mouse models. These studies have provided major insights into the molecular and biochemical abnormalities associated with NF1 that impact on cognitive performance. Preclinical studies suggest that pharmacological correction of these abnormalities has the potential to normalize aspects of the NF1 cognitive phenotype. These are reviewed along with the rationale for ongoing and future human clinical trials.

Original languageEnglish
Title of host publicationNeurofibromatosis type 1
Subtitle of host publicationsymptoms, treatment and prognosis
EditorsMatthias A. Karajannis, Jeffrey Allen
Place of PublicationHauppauge, NY
PublisherNova Science Publishers
Pages117-146
Number of pages30
ISBN (Electronic)9781628081657
ISBN (Print)9781628081596
Publication statusPublished - 2013
Externally publishedYes

Publication series

NameGenetics-Research and issues

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