Neurofibromatosis 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder occurring in 1:4000 worldwide.  Scoliosis is perhaps the most common skeletal problem in patients with NF1 with a prevalence of 1069%. There are two types: dystrophic and non dystrophic scoliosis.  Dystrophic scoliosis appears to have a poorer prognosis.  Dystrophic changes develop over time and may not necessarily appear at initial presentation.  Therefore the development and validation of a radiographic scheme to classify dystrophic scoliosis is needed to aide in distinguishing dystrophic from non dystrophic scoliosis and allow early detection and intervention and is our first objection. The second objective rests on the fact that NF1 has marked variability of clinical expression.  There is evidence that other genes may play a role in NF1 expression. Current research has identified candidate genetic SNP markers that can predict progressive and non-progressive curves in Adolescent Idiopathic Scoliosis (AIS) with a high degree of reliability.  If the same genetic markers are present in non-dystrophic scoliosis then this will allow earlier, more accurate prognostication, and perhaps improve treatment. Thus our hypothesis is that  NF1 patients with non-dystrophic or dystrophic scoliosis have the same genetic markers as patients with AIS.