Neurofibromatosis type 1

Jacqueline L. Anderson, David H. Gutmann

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

48 Scopus citations

Abstract

Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from neurofibromatosis type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race. The classic manifestations of NF1 include café-au-lait macules, skinfold freckling, neurofibromas, brain tumors, iris hamartomas, and characteristic bony lesions. In addition, patients with NF1 are at increased risk for learning and intellectual disabilities, aqueductal stenosis, pheochromocytoma, vascular dysplasia, scoliosis, and cancer. In this chapter, we discuss the clinical and molecular features of NF1 as well as how insights into its underlying molecular pathophysiology have revealed new targets for therapeutic drug design.

Original languageEnglish
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages75-86
Number of pages12
DOIs
StatePublished - Jan 1 2015

Publication series

NameHandbook of Clinical Neurology
Volume132
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • Café-au-lait macules
  • Malignant peripheral nerve sheath tumor
  • Neurofibroma
  • Optic pathway glioma
  • Von Recklinghausen

Fingerprint Dive into the research topics of 'Neurofibromatosis type 1'. Together they form a unique fingerprint.

Cite this