title: Hereditary spinal neurofibromatosis: a rare form of NF1?
abstract: We describe a family in which seven members in three generations were affected with a rare spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had café au lait spots, one had several freckles in the axillary area, and two had possible dermal neurofibromas, but iris Lisch-nodules were not present. Other signs of neurofibromatosis types 1 and 2 were absent. A linkage study of the family suggested close linkage to the NF1 locus and excluded it from the NF2 locus. The DNA analysis of histopathologically verified spinal neurofibromas in two patients showed no evidence of LOH at 17q11.2. The findings in the present family, together with those in a family previously described, suggest a clinically distinct form of neurofibromatosis with extensive spinal neurofibromas and café au lait macules, which may be allelic to the NF1 gene.
authors.affiliation: Department of Clinical Genetics, University Hospital of Oulu, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Poyhonen
authors.forename: E L
authors.initials: EL
authors.lastname: Leisti
authors.forename: S
authors.initials: S
authors.lastname: Kytölä
authors.forename: J
authors.initials: J
authors.lastname: Leisti
mesh_terms: D000328:Adult; D019080:Cafe-au-Lait Spots / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009455:Neurofibroma / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D013125:Spinal Neoplasms / Q000235:genetics*