Brain structure and function in neurofibromatosis type 1: current concepts and future directions.
Jonathan M Payne1, Mahendranath D Moharir, Richard Webster
1Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia.
Journal of Neurology, Neurosurgery, and Psychiatry
|February 27, 2010
Summary
Neurofibromatosis type 1 (NF1) involves brain abnormalities contributing to cognitive issues. This review highlights increased brain volume and altered brain organization in individuals with NF1.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder.
- NF1 is frequently associated with cognitive dysfunction and learning disabilities.
Purpose of the Study:
- To review structural and functional neuroimaging findings in individuals with NF1.
- To discuss the neurobiological correlates of cognitive impairments in NF1.
Main Methods:
- Systematic review of structural and functional neuroimaging literature in NF1.
- Analysis of studies examining brain volume, grey/white matter, and brain activity.
Main Results:
- Consistent findings of structural brain abnormalities in NF1, including increased total brain volume.
- Evidence of altered brain organization for language and visuospatial functions, and thalamic hypometabolism.
- Structural and functional brain abnormalities are linked to cognitive impairments in NF1.
Conclusions:
- Brain abnormalities are a key feature of NF1, contributing to cognitive deficits.
- Further research with specific hypotheses and control groups is needed.
- Understanding neuropathology is crucial for developing targeted interventions for NF1.
