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

Francesco Nicita, Isabella Torrente, Alberto Spalice, Irene Bottillo, Laura Papetti, Valentina Pinna, Fabiana Ursitti, Martino Ruggieri

Research output: Contribution to journalArticlepeer-review


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 exhibited classical NF1 stigmata. A novel missense (c.7109 T > A; p.Val2370Asp) mutation in exon 39 of the NF1 gene was present in the affected family members. The family displayed extreme phenotypic variability in the spectrum of NF1. To our knowledge, this is the first patient with spinal neurofibromatosis in the context of classical NF1 with an NF1 gene mutation. The term FSNF is inaccurate as this condition simply reflects the typical autosomal dominant pattern of NF1 inheritance with phenotypoc variability and does not encompass patients with sporadic disease or those in the context of a classical NF1 phenotype as reported in the present family. The term could be replaced by "spinal neurofibromatosis".

Original languageEnglish
Pages (from-to)328-330
Number of pages3
JournalJournal of Clinical Neuroscience
Issue number2
Publication statusPublished - Feb 2014


  • Familial spinal neurofibromatosis
  • Neurocutaneous syndrome
  • Neurofibromatosis
  • NF1
  • Phakomatosis
  • Spinal cord

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Physiology (medical)


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