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Clear Genetic Progress

David H. Gutmann, MD, PhD

Arch Neurol. 1998;55:778-780.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

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.

The identification of disease genes through powerful genetic approaches, such as positional cloning, holds the promise for a better understanding of the pathogenesis of neurogenetic diseases. The NF1 gene was identified by positional cloning in 1990, and . . . [Full Text of this Article]

LEARNING DISABILITIES

OPTIC PATHWAY GLIOMAS

NEUROFIBROMAS

CONCLUSIONS

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

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