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Abstract #2681

Diffusion magnetic resonance imaging in genetic and idiopathic dystonias

Claire Louise MacIver1,2, Derek Jones1, Chantal Tax1,3, and Kathryn Peall2
1Cardiff University Brain Imaging Centre, Cardiff University, Cardiff, United Kingdom, 2Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom, 3Image Sciences Institute, University Medical Centre Utrecht, Utrecht, Netherlands


Dystonia is a hyperkinetic movement disorder involving repetitive or sustained muscle contractions. Its pathophysiology is poorly understood, limiting therapeutic advancement. A systematic literature review on diffusion MRI in dystonia was performed to gain insight into microstructural white matter changes that may contribute to pathology. Of 403 identified records, 40 met the criteria for inclusion. The most consistent diffusion abnormalities for both genetic and idiopathic dystonia forms were lower FA values or reduced number of tractography streamlines in regions connecting brainstem, cerebellum, basal ganglia and sensorimotor cortex, with some genotype and phenotype specific differences identified.

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