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Exploring the Link Between Dystonia Genes and Idiopathic Scoliosis

Gonzalez-Alegre, Pedro MD, PhD*; Buffard, Valerie BSc; Wang, Kai PhD; Henien, Shady MD; Morcuende, Jose A. MD, PhD

Journal of Pediatric Orthopaedics: September 2013 - Volume 33 - Issue 6 - p e65–e66
doi: 10.1097/BPO.0b013e31829aac15

Background: Adolescent idiopathic scoliosis (AIS) is characterized by a complex curvature of the spine of unknown etiology. Unknown genetic factors likely play a role in disease pathogenesis. Recent studies suggest that AIS could result from central nervous system dysfunction and be related to dystonia. On the basis of this information, we hypothesized that genes linked to dystonia contribute to the pathogenesis of AIS.

Methods: To test this hypothesis, we evaluated the potential association between sequence variants in candidate dystonia genes and AIS. We sequenced the coding region of 5 selected dystonia-causing genes in 24 subjects with AIS, followed by targeted confirmation in additional 89 patients and 73 controls.

Results: No mutations were identified in any of the dystonia genes studied.

Conclusions: We found no genetic link between dystonia and AIS.

Clinical Relevance: This investigation is a genetic evaluation of the association between dystonia and AIS. Despite the support in the literature for a pathogenic link between both the disorders, we have not identified any mutations in dystonia genes in patients with AIS.

Departments of *Neurology

Orthopedic Surgery and Rehabilitation, Roy J and Lucille Carver College of Medicine

Department of Biostatistics, College of Public Health, The University of Iowa, Iowa City, IA

Supported by funds from the Iowa Medical Student Research Program.

P.G.-A. has received Honoraria from Lundbeck for his participation in the Xenazine Advisory Board. The remaining authors declare no conflict of interest.

Reprints: Pedro Gonzalez-Alegre, MD, PhD, Department of Neurology, Roy J and Lucille Carver College of Medicine, The University of Iowa, 3111 MERF, 375 Newton Road, Iowa City, IA 52242. E-mail:

© 2013 by Lippincott Williams & Wilkins