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Neurofibromatosis Type I


Contact S.C.J. Huijbregts
Financiering Dutch Neurofibromatosis Association (NFVN)Dutch Neurofibromatosis Association (NFVN)


Neurofibromatosis type 1 (NF1), also known as 'Von Recklinghausen’s disease', is a genetic disorder affecting about 1 in 3000 people. Physical manifestations of NF1 include:

  • cafĂ©-au-lait spots,

  • skin fold freckling,

  • optic nerve glioma,

  • osseous (bone) abnormalities,

  • iris Lisch nodules,

  • and cutaneous and plexiform neurofibromas.

Cognitive impairment is present in approximately 50% of NF1 patients. Many different types of cognitive problems have been observed in NF1-patients. Our previous studies have focused on the further elucidation of the cognitive profile of NF1-patients.

We have extended this research to include aspects of social cognition and social functioning. Studies have also described many different abnormalities in the brains of NF1-patients, but have largely been unable to find strong associations with cognitive functioning. Our current work involves a study into structural and functional connectivity in the brains of NF1-patients in relation to their (social-) cognitive functioning.

This study is performed in collaboration with the Leiden Institute for Brain and Cognition (LIBC).

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