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

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Technical Report,01 Aug 2010,31 Jul 2015

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University of Minnesota Minneapolis United States

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Dystrophic or non-dystrophic forms of scoliosis are skeletal manifestations of Neurofibromatosis type 1 NF1. Dystrophic scoliosis has a more progressive and debilitating course than non-dystrophic scoliosis, often requiring substantial surgical intervention. Experts have recommended early intervention for better outcomes but clinical tools for early detection of dystrophic scoliosis have not been developed. The first goal of this study was to develop a validated radiographic tool for differentiation of dystrophic vs. non-dystrophic scoliosis. The second goal was to determine if an existing genetic test used to predict scoliosis progression in adolescent idiopathic scoliosis could also identify dystrophic scoliosis in NF1 patients. Early detection may change the treatment paradigm. Discerning that a patient is non-dystrophic may lessen the frequency of evaluations. We found that radiographic characteristics of rib penciling, vertebral rotation, vertebral wedging, and atypical curve apex location are the most predictive of dystrophic scoliosis. If all four of these were present, there was a 96 probability that the curve was dystrophic. Genetic testing using the ScoliScore test showed significantly higher scores for dystrophic versus non-dystrophic scoliosis in NF1 patients. These genetic and radiographic findings will more reliably classify NF1 patients with dystrophic scoliosis.

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