Trial Information

Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis

NF 1 patients with scoliosis can present as either non dystrophic or dystrophic scoliosis.
Non dystrophic scoliosis behaves and evolves similarly to that of AIS patients. Therefore,
we hypothesize that Neurofibromatosis type 1 patients with non-dystrophic scoliosis have a
similar curve progression risk profile markers as patients with Adolescent Idiopathic
Scoliosis. Dystrophic scoliosis patients will not have the same curve progression risk
profile as AIS. The long range goal of this study is to possibly develop a genetic test in
NF1 patients with scoliosis that is predictive of dystrophic or non-dystrophic type. The
short term goal for the study is to see if the non-dystrophic curves have the same
single-nucelotide polymorphisms (SNPs') as in AIS and if these SNPs are prognostic.

One of the goals of this study is to develop and validate a grading scheme to classify
dystrophic changes in patients with NF 1 scoliosis. Radiographic characteristics of
dystrophic deformity described by Crawford and Durrani et. al. will distinguish dystrophic
scoliosis from non-dystrophic scoliosis. In addition, we will be performing genetic testing
on patients with NF 1 who have had clinical treatment for scoliosis. Although the NF1 gene
has been identified no specific genetic markers have been identified in NF1 patients with
scoliosis. Genetic evaluation on a known group of NF1 patients with scoliosis will allow us
to gain insight as to which phenotypes of NF1 patients would possibly develop spine
deformities.