NF1 mutations and clinical spectrum in patients with spinal neurofibromas

][9] Spinal tumours cause neurological symptoms in about 2% of NF1 patients and can be detected in 40% of NF1 patients by magnetic resonance imaging (MRI). 10Patients with multiple spinal tumours but very few or no other clinical symptoms of NF1, including three multigenerational families, [11][12][13] have been reported, suggesting a subgroup or a distinct genetic form of NF1, spinal neurofibromatosis (SNF). 14In one of these multigenerational families, a truncating mutation in exon 46 of the NF1 gene was found. 13However, no systematic study of the clinical spectrum of patients with spinal tumours and of the NF1 mutations associated with it has been carried out.In this study, we performed a clinical and molecular examination of patients from 17 families with spinal tumours.. . . . . . . . . . .