Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

@article{Nicita2014SpinalNI,
  title={Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.},
  author={Francesco Nicita and Isabella Torrente and A Spalice and Irene Bottillo and Laura Papetti and Valentina Pinna and Fabiana Ursitti and Martino Ruggieri},
  journal={Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia},
  year={2014},
  volume={21 2},
  pages={328-30}
}
Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations. We describe a patient who fulfilled the diagnostic criteria for spinal neurofibromatosis and belonged to a family in which other affected members… CONTINUE READING
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