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Curr Neurol Neurosci Rep. 2003 Mar;3(2):129-36.

Neurocognitive dysfunction in children with neurofibromatosis type 1.

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Department of Neurology, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA.


The cognitive dysfunction associated with neurofibromatosis type 1 (NF1) is an intriguing aspect of this phenotypically heterogeneous genetic neurocutaneous disorder. A broad range of both nonverbal and verbal learning disabilities are evident in approximately 30% to 65% of children with NF1. Deficits in IQ, executive function, attention, and motor skills have also been documented. Current challenges lie in discovering the underlying multifactorial etiologies of the cognitive abnormalities found in NF1. Likely answers lie in neuroanatomic correlates as seen on neuroimaging as well as in molecular and genetic advances into the role of neurofibromin, the protein product of the NF1 gene. The development of NF1 animal models with learning and memory difficulties similar to those seen in humans demonstrates promising preliminary evidence that medical treatment of cognitive abnormalities may one day be possible.

[Indexed for MEDLINE]

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