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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1

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Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Is there a relationship between neurofibromatosis type 1 (NF1) and epilepsy or mood disorders? Also, do individuals with NF1 have a normal life expectancy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is there a relationship between neurofibromatosis type 1 and epilepsy?

The prevalence of seizures in people with neurofibromatosis type 1 (NF1) has been reported to range from 4 to 7%.[1][2] In an article published in 2003 in the Journal of Child Neurology, the investigators reported that out of 198 patients affected by NF1, fourteen patients (7%) were found to be epileptic. In nine (64%), epilepsy was secondary to brain lesions such as cerebral tumors, cortical malformation (abnormalities in the development of the cerebral cortex), and mesial temporal sclerosis (the loss of neurons and scarring of the temporal lobe). These findings indicate that patients with NF1 have an increased risk of epilepsy related to intracranial masses (masses within the skull) and other abnormalities.[2]
Last updated: 7/20/2015

Is there a relationship between neurofibromatosis type 1 and mood disorders?

Neurofibromatosis type 1 (NF1) is often associated with psychiatric disorders, which are reportedly more frequent in NF1 than in the general population. Dysthymia (a chronic type of depression) has been reported as the most frequent diagnosis. There is also a high prevalence of depressive mood, anxiety, and personality disorders. The risk of suicide is reportedly four times greater than in the general population. Bipolar mood disorders or schizophrenia appear to be rare. The impaired quality of life associated with NF1 may play an important role in the development of psychiatric disorders in people with the condition.[3][4]
Last updated: 5/31/2011

What is the long-term outlook for people with neurofibromatosis type 1?

The long-term outlook (prognosis) for people with neurofibromatosis type 1 (NF1) varies based on the severity of the condition and the signs and symptoms present in each person. Although people with NF1 can live relatively long and healthy lives, the median life expectancy is approximately eight years lower than in the general population.[5] The most common causes of mortality in people with NF1 are hypertension, symptoms related to spinal cord tumors, and malignancy. Fortunately, early detection and prompt attention to complications associated with NF1, including tumors and cancers can improve quality of life and survival of the condition.[6][7]
Last updated: 7/19/2015

References
  • Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. October 2013; 54(10):1810-1814.
  • Vivarelli R et al. Epilepsy in neurofibromatosis 1. Journal of child neurology. May 2003; 18(5):338-342. http://www.ncbi.nlm.nih.gov/pubmed/12822818. Accessed 5/25/2011.
  • Belzeaux R, Lançon C. [Neurofibromatosis type 1: psychiatric disorders and quality of life impairment]. Presse Medicale. February 2006; 35 (2 Pt 2):277-280.
  • Cohen JS, Levy HP, Sloan J, Dariotis J, Biesecker BB. Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life. Clin Genet. December 2014; [Epub ahead of print].
  • JM Friedman, MD, PhD. Neurofibromatosis 1. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK1109/.
  • David T Hsieh, MD. Neurofibromatosis Type 1. Medscape Reference. December 2014; http://emedicine.medscape.com/article/1177266-overview.
  • Bruce R Korf, MD, PhD. Neurofibromatosis type 1 (NF1): Management and prognosis. UpToDate. March 2015; Accessed 7/19/2015.
Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.