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.