Movement Disorders Clinical Practice最新文献

Background: A simple prognostic model was previously developed to predict the probability of recently-diagnosed patients reaching negative outcomes (postural instability, dementia or death) in a 5-year period.

Objectives: To validate this model in an independent cohort and establish utility at later time points.

Methods: Validation was performed using data collected in an incident cohort at baseline, 2 and 4 years. Predicted negative outcome probabilities were compared to actual 5-year outcomes.

Results: The model, based on age, MDS-UPDRS axial score and 60-second animal fluency, predicted poor 5-year outcome when applied at baseline, (area under the curve (AUC) 0.80), 2 years (AUC 0.82) and 4 years (AUC 0.71). Power calculations showed that selecting a subgroup with prognostic score >0.5 reduced the sample size required for a disease-modifying trial.

Conclusions: This 5-year prognostic model has good accuracy when employed up to 4 years from diagnosis and may help stratification for disease-modifying trials.

Background: Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants.

Objectives: To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance.

Methods: Six subjects of a multi-generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole-exome sequencing analysis.

Results: All six subjects presented with early-onset prominent hand dystonic tremor and multifocal/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic TMEM240 c.509C>T (p.P170L) variant was found in heterozygosis in all subjects.

Conclusions: Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.

Background: We hypothesized that many neurologists underestimate patients' willingness to self-administer injectable Parkinson's disease (PD) medication.

Objective: To evaluate patient and physician perceptions contributing to underutilization of PD medications for acute OFF episodes.

Analytic method: Data were collected using an online survey including n = 4063 PD patients experiencing OFF episodes and n = 200 neurologists.

Results: 89% of patients were willing to self-inject rescue therapies to treat acute OFF episodes. After reviewing patient survey data, 54% of general neurologists and 37% of movement disorder specialist (MDS) demonstrated a change in perceptions about patients' willingness to use self-injected therapies (P < 0.05). 37% of general neurologists and 21% of MDS indicated a greater likelihood of prescribing these treatments (P < 0.05).

Conclusions: Most patients suffering from OFF episodes would be willing to self-inject to abort their symptoms. Neurologists underestimate this patient acceptance. Understanding patient attitudes and further education about rescue therapies is likely to increase use of these therapies.

Background: The shift toward virtualized care introduces challenges in assessing the motor severity of Parkinson's disease (PD). The Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part III, the most used rating scale in PD, lacks validation for synchronous remote administration.

Objective: Our goal was to validate the usability of a patient guide to allow an accurate video-based MDS-UDPRS part III remote examination.

Methods: We conducted a multi-stage mixed methods study that included a team consensus for the concept of the guide, cognitive pretesting, and usability (system usability scale, [SUS]) testing in five sites (total n = 25 participants) with distinct linguistic and cultural contexts.

Results: A multi-language (English, Portuguese, Spanish, and traditional Chinese) largely pictograph guide of the MDS-UPDRS part III remote examination reached benchmark for usability (SUS score ≥68) in 25 participants who completed the synchronous remote assessment.

Conclusions: The MDS-UDPRS part III remote examination guide can be used remotely accurately, and facilitate clinical practice and research in a paradigm of telemedicine.

Background: Little is known about the relationship between parkinsonism or Parkinson's disease (PD) and frailty in Latin America.

Objective: The study aimed to determine the cross-sectional and prospective associations between parkinsonism and PD with frailty in a large multi-country cohort in Latin America. Frailty was assessed using three different models to explore which definitions are more appropriate to screen for frailty in a PD population.

Methods: 12,865 older adults (aged ≥65 years) from the 10/66 population-based cohort study in six Latin American countries were analyzed. Logistic regression models assessed the cross-sectional association between parkinsonism/PD with baseline frailty. Individual country analyses were combined via fixed-effect meta-analysis. In non-frail participants who were followed up for 4 years, Cox proportional hazards regression models assessed the prospective association between parkinsonism/PD with incident frailty accounting for competing risk of mortality.

Results: At baseline, the prevalence of parkinsonism and PD was 7% and 2%, respectively, and the prevalence of frailty varied across the three models with rates of 18% for frailty phenotype, 20% for frailty index and 30% for multidimensional frailty model. PD was associated with baseline and incident frailty after accounting for age, sex, and education: odds ratios and 95% confidence intervals (95% CI) for frailty were 2.49 (95% CIs 1.87-3.31), 2.42 (95% CIs 1.80-3.25), and 1.57 (95% CIs 1.16-2.21), and cause-specific hazard ratios were 1.66 (95% CIs 1.07-2.56), 1.78 (95% CIs 1.05-3.03), and 1.58 (95% CIs 0.91-2.74). Similar results were found for parkinsonism.

Conclusion: Parkinsonism and PD were cross-sectionally and prospectively associated with frailty in Latin America. Routine screening for frailty in PD patients may aid earlier detection of those at greater risk of adverse outcomes.