Recent Insights Into Neurofibromatosis Type 1: Clear Genetic Progress | Congenital Defects | JAMA Neurology | JAMA Network
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Neurological Review
June 1998

Recent Insights Into Neurofibromatosis Type 1: Clear Genetic Progress

Author Affiliations

From the Department of Neurology, Washington University School of Medicine, St Louis, Mo.

Arch Neurol. 1998;55(6):778-780. doi:10.1001/archneur.55.6.778

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurogenetic disorder in which affected patients develop both benign and malignant tumors at an increased frequency.1 Neurofibromatosis type 1 affects approximately 1 in 3000 individuals worldwide, without regard to sex, race, or ethnic background. The hallmark of the clinical disorder is the development of pigmentary lesions (café au lait spots, skinfold freckling, and Lisch nodules), distinctive skeletal lesions (sphenoid wing dysplasia and pseudoarthrosis), and tumors, such as optic pathway gliomas and neurofibromas. In addition to these clinical features, 40% to 60% of children with NF1 manifest specific learning disabilities, including attention deficit hyperactivity disorder and deficits in visuospatial processing.