Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of ∼1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1.
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January 2009
Review Articles|
January 01 2009
Neurofibromatosis Type 1 Revisited
Virginia C. Williams, BS;
Virginia C. Williams, BS
aDepartments of Pediatrics and Neurosciences and Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina
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John Lucas, BS;
John Lucas, BS
aDepartments of Pediatrics and Neurosciences and Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina
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Michael A. Babcock, BS;
Michael A. Babcock, BS
aDepartments of Pediatrics and Neurosciences and Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina
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David H. Gutmann, MD, PhD;
David H. Gutmann, MD, PhD
bDepartment of Neurology, Washington University School of Medicine, St Louis, Missouri
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Bruce Korf, MD, PhD;
Bruce Korf, MD, PhD
cDepartment of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
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Bernard L. Maria, MD, MBA
Bernard L. Maria, MD, MBA
aDepartments of Pediatrics and Neurosciences and Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina
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Address correspondence to Bernard L. Maria, MD, MBA, Medical University of South Carolina, PO Box 250514, 173 Ashley Ave, Charleston, SC 29425. E-mail: [email protected]
Pediatrics (2009) 123 (1): 124–133.
Article history
Accepted:
March 31 2008
Citation
Virginia C. Williams, John Lucas, Michael A. Babcock, David H. Gutmann, Bruce Korf, Bernard L. Maria; Neurofibromatosis Type 1 Revisited. Pediatrics January 2009; 123 (1): 124–133. 10.1542/peds.2007-3204
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