The cognitive profile of NF1 children: therapeutic implications

Natalie A. Pride, Kathryn N. North*

*Corresponding author for this work

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

7 Citations (Scopus)


Neurofibromatosis type 1 (NF1) is a complex multisystem disorder with an autosomal dominant pattern of inheritance and marked clinical variability. In the last 15 years, there have been a number of studies which have influenced our current understanding of the frequency and nature of cognitive deficits in NF1. Collectively, the studies reviewed here reveal that cognitive impairment, learning difficulties, and behavioural disturbances such as attention deficit hyperactivity disorder (ADHD) are highly prevalent and undoubtedly reflect a perturbation of central nervous system functioning. Neuroimaging studies have provided important insight into the structural and functional brain abnormalities involved which include alternations in brain organisation for language and visuospatial function and increased total brain volume, with additional areas of interest including the corpus callosum, cerebral asymmetries, thalamus, and striatum. Recent studies in animal models are also beginning to provide insights into the underlying biochemical mechanisms including abnormal activation of the Ras-MAPK pathway and alternations in neurotransmitters such as dopamine and GABA. These studies are vital to the development of targeted treatment for cognitive deficits in NF1.

Original languageEnglish
Title of host publicationNeurofibromatosis type 1
Subtitle of host publicationMolecular and cellular biology
EditorsMeena Upadhyaya, David N. Cooper
Place of PublicationBerlin
PublisherSpringer, Springer Nature
Number of pages15
ISBN (Electronic)9783642328640
ISBN (Print)9783642328633
Publication statusPublished - 1 Aug 2012
Externally publishedYes


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