Abstract

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant neurogenetic disorder, affecting 1 in 3000 people worldwide. While individuals with NF1 typically come to medical attention with characteristic pigmentary abnormalities (café-au-lait macules [CALMs], skinfold freckling, Lisch nodules), they are also prone to the development of numerous other clinical problems, including bone defects (tibial bowing and pseudarthrosis, sphenoid wing dysplasia); cognitive, behavioral, and specific learning difficulties; and benign and malignant nervous system tumors (neurofibromas, malignant peripheral nerve sheath tumors, optic pathway and brainstem gliomas). Since the identification of the NF1 gene and its encoded protein product, neurofibromin, converging data from laboratory and clinical studies have led to new insights into the mechanisms that underlie disease pathogenesis and progression, and have revealed new targets for therapeutic intervention. While the mainstay of NF1 management remains age-specific surveillance and anticipatory guidance, recent research has begun to identify prognostic risk factors for specific NF1 clinical features and disease severity that may lead to future precision medicine approaches.

Original languageEnglish
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition
Subtitle of host publicationVolume 2
PublisherElsevier
Pages231-249
Number of pages19
Volume2
ISBN (Electronic)9780443191763
ISBN (Print)9780443191770
DOIs
StatePublished - Jan 1 2024

Keywords

  • malignant peripheral nerve sheath tumor
  • neurofibroma
  • Neurofibromatosis
  • neurofibromin
  • neurogenetics
  • optic pathway glioma
  • RAS

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