Select Review Articles

We recommend the following selection of articles on the specific clinical features of NF1 and NF2. The articles  are categorized by topic with Web links to for your convenience.

General neurofibromatosis (NF1 & NF2)

  • Gutmann DH, et al (1997). The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. PMID:9207339
  • Boyd KP, et al (2009). Neurofibromatosis type 1. PMID:19539839
  • Lu-Emerson C and Plotkin SR (2009). The Neurofibromatoses. Part 1: NF1.  PMID:19587630
  • Jett K and Friedman JM (2010). Clinical and genetic aspects of neurofibromatosis 1. PMID:20027112

Optic pathway gliomas (OPGs)

  • Listernick R, et al (1999). Intracranial gliomas in neurofibromatosis type 1.  PMID:10469435
  • Listernick R, et al (2007). Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. PMID:17387725

Learning disabilities/attention deficits

  • Ozonoff S (1999). Cognitive impairment in neurofibromatosis type 1. PMID:10469436
  • Levine TM, et al (2006). Cognitive profile of neurofibromatosis type 1. PMID:16818171
  • Gilboa Y, et al (2010). Application of the International Classification of Functioning, Disability and Health in children with neurofibromatosis type 1: a review. PMID:20187887

Plexiform neurofibromas

Malignant peripheral nerve sheath tumors (MPNSTs)

  • Ferner RE and Gutmann DH (2002). International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. PMID:11894862
  • Widemann BC (2009). Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. PMID:19508838


  • De Schepper S, et al (2005). Pigment cell-related manifestations in neurofibromatosis type 1: an overview. PMID:15649148
  • Nunley KS, et al (2009). Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. PMID:19687418


  • Friedman JM, et al (2002). Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. PMID:12180143


  • Crawford AH and Herrera-Soto J (2007). Scoliosis associated with neurofibromatosis. PMID:17945135
  • Feldman DS, et al (2010). Orthopaedic manifestations of neurofibromatosis type 1.  PMID:20511440

Neurofibromatosis type 2 (NF2)

  • Lu-Emerson C and Plotkin SR (2009). The neurofibromatoses. Part 2: NF2 and schwannomatosis. PMID:19898272
  • Asthagiri AR, et al (2009). Neurofibromatosis type 2. PMID:19476995