Objective: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study. Methods:In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity).Results: Querying the database for the presence of any medication for dystonia used (includes both injectable and oral therapy), we found 73% using medications (n 5 1,488) and 27% using no dystonia medications (n 5 538). Furthermore, 61% of the total sample used botulinum toxin (BoNT) therapy alone or in combination. Differences were found in medication use patterns by dystonia type, with the lowest oral medication use in focal dystonia and highest use in generalized dystonia; by region, with highest BoNT therapy rate reported in Italy and the lowest in the Northeast region of the United States; and by focal dystonia subtype, with highest BoNT therapy alone in blepharospasm and spasmodic dysphonia (49%) and lowest in other cranial dystonia (32%). Conclusions:The majority of patients with dystonia enrolled in the Dystonia Coalition Project 1 were using medications to treat their dystonia. Overall, a complex picture of medication use patterns emerged, with factors such as region, disease duration, type of dystonia, disease severity, and psychiatric comorbidities all playing a significant role. Neurology ® 2017;88:543-550 GLOSSARYBoNT 5 botulinum toxin; DBS 5 deep brain stimulation; GDRS 5 Global Dystonia Rating Scale.Although botulinum toxin (BoNT) injections are the gold standard therapy for patients with focal dystonia, oral medications such as anticholinergics and GABAergic classes are typically recommended in published treatment reviews on dystonia.1 We currently do not know the range or type of oral medications actually used in patients with dystonia (alone or combined with BoNT).In a study performed as an online survey, most patients (86%) with a self-reported diagnosis of cervical dystonia had used BoNT, and the majority of patients (53%) also reported oral medication for their dystonia symptoms.2 This study supports that many patients with dystonia use oral medications, but we do not know the type or class of medication used in this population.We conducted a cross-sectional study in an international cohort to better characterize and understand medication use in the dystonia population. This study provides an opportunity to explore the potential therapeutic gap in the treatment of dystonia and whether this gap might differ among the subtypes of dystonia, requiring a precision medicine approach.

Individual differences in dopaminergic tone underlie tendencies to learn from reward versus punishment. These effects are well documented in Parkinson’s patients, who vacillate between low and high tonic dopaminergic states as a function of medication. Yet very few studies have investigated the influence of higher-level cognitive states known to affect downstream dopaminergic learning in Parkinson’s patients. A dopamine-dependent cognitive influence over learning would provide a candidate mechanism for declining cognitive integrity and motivation in Parkinson’s patients. In this report we tested the influence of two high-level cognitive states (cost of conflict and value of volition) that have recently been shown to cause predictable learning biases in healthy young adults as a function of dopamine receptor subtype and dopaminergic challenge. It was hypothesized that Parkinson’s patients OFF medication would have an enhanced cost of conflict and a decreased value of volition, and that these effects would be remediated or reversed ON medication. Participants included N=28 Parkinson’s disease patients who were each tested ON and OFF dopaminergic medication and 28 age- and sex-matched controls. The expected cost of conflict effect was observed in Parkinson’s patients OFF versus ON medication, but only in those that were more recently diagnosed (<5 years). We found an unexpected effect in the value of volition task: medication compromised the ability to learn from difficult a-volitional (instructed) choices. This novel finding was also enhanced in recently diagnosed patients. The difference in learning biases ON vs. OFF medication between these two tasks was strongly correlated, bolstering the idea that they tapped into a common underlying imbalance in dopaminergic tone that is particularly variable in earlier stage Parkinsonism. The finding that these decision biases are specific to earlier but not later stage disease may offer a chance for future studies to quantify phenotypic expressions of idiosyncratic disease progression.

Background Recruitment for clinical trials is a major challenge. Movement disorders, which do not have associated diagnostic laboratory tests, may be especially prone to inaccuracy in coding. Our objective was to evaluate the accuracy of diagnostic codes such as cervical dystonia (CD) and PD in an electronic medical record. Methods Retrospective chart review was performed to confirm the ICD-9 diagnoses of PD, CD and diabetes mellitus type 2 (DM-2), using published clinical diagnostic criteria (PD, CD) and hemoglobin A1c ≥ 6.5 (DM-2). Results 421 charts (n=129, n=142, n=150 for PD, CD and DM-2, respectively) were reviewed. The accuracy rate was different between all diseases examined with an overall p<0.001. In post hoc pairwise comparisons, the accuracy of DM-2 diagnosis by ICD-9 (96.6%) was greater than CD (88.0%) and both greater than PD (55.0%) (p≤0.003). Conclusions Using an electronic medical record based screening of clinically diagnosed diseases such as CD may be more accurate than previously thought and may identify potential clinical trial participants even without confirmatory lab tests available.

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