Objectives: Alterations in sensory discrimination are a prominent nonmotor feature of dystonia. Abnormal temporal discrimination in focal dystonia is considered to represent its mediational endophenotype, albeit unclear pathophysiological correlates. We examined the associations between the visual temporal discrimination threshold (TDT) and brain activity in patients with musician's dystonia, nonmusician's dystonia, and healthy controls.
Methods: A total of 42 patients and 41 healthy controls participated in the study. Between-group differences in TDT z scores were computed using inferential statistics. Statistical associations of TDT z scores with clinical characteristics of dystonia and resting-state functional brain activity were examined using nonparametric rank correlations.
Results: The TDT z scores of healthy controls were significantly different from those of patients with nonmusician's dystonia, but not of patients with musician's dystonia. Healthy controls showed a significant relationship between normal TDT levels and activity in the inferior parietal cortex. This relationship was lost in all patients. Instead, TDT z scores in musician's dystonia established additional correlations with activity in premotor, primary somatosensory, ventral extrastriate cortices, inferior occipital gyrus, precuneus, and cerebellum, whereas nonmusician's dystonia showed a trending correlation in the lingual gyrus extending to the cerebellar vermis. There were no significant relationships between TDT z scores and dystonia onset, duration, or severity.
Conclusions: TDT assessment as an endophenotypic marker may only be relevant to nonmusician forms of dystonia because of the lack of apparent alterations in musician's dystonia. Compensatory adaptation of neural circuitry responsible for TDT processing likely adjusted the TDT performance to the behaviorally normal levels in patients with musician's dystonia, but not nonmusician's dystonia. © 2020 International Parkinson and Movement Disorder Society.
Keywords: laryngeal dystonia; mediational endophenotype; musician's focal hand dystonia; resting-state functional activity; singer's dystonia; writer's cramp.
© 2020 International Parkinson and Movement Disorder Society.