Movement Disorders Clinical Practice最新文献

Background: The accessibility of Parkinson's disease medicines is limited across sub-Saharan Africa, which can have negative health, social and financial consequences for people with Parkinson's disease and their families. However, there is a stark gap in the literature regarding the impact of poor access to medicines on individuals.

Objectives: The study objective was to understand the accessibility of Parkinson's disease medicines in Kenya from the perspective of people with Parkinson's disease, their caregivers and neurologists.

Methods: In-depth qualitative interviews were conducted with 55 people with Parkinson's disease, 23 caregivers and 8 neurologists to understand their experience regarding challenges with accessing Parkinson's disease medicines and the health, social and financial impact of poor availability and affordability.

Results: Medicines for Parkinson's disease were deemed to be largely unavailable and unaffordable across Kenya. People with Parkinson's disease, caregivers and neurologists expressed the financial burden caused by long-term treatment in the absence of health insurance coverage. Further, barriers accessing medicines negatively impacted symptom control, social relations, and quality of life.

Conclusions: Access to Parkinson's disease medicines in Kenya is limited, with severe implications for symptom management and quality of life. People with Parkinson's disease should be able to access and afford the medicines they need to manage their condition.

Background: This systematic review and meta-analysis aimed to assess the effectiveness of non-invasive brain stimulation (NIBS), including repetitive transcranial magnetic stimulation (rTMS) and transcranial electrical stimulation (tES), as a neurological intervention for degenerative cerebellar ataxia (DCA) based on preregistration (PROSPERO: CRD42023379192).

Objective: We aimed to explore clinical outcomes and examine the parameters associated with NIBS efficacy in DCA patients.

Methods: The PubMed, Cochrane Library, CHINAL, and PEDro databases were searched for relevant randomized controlled trials (RCTs). Data extraction, quality assessment, and heterogeneity analyses were conducted; the Grading, Recommendations, Assessment, Development, and Evaluation was used to assess the quality of evidence and a meta-analysis was performed.

Results: Seventeen RCTs that included 661 patients on the scale for assessment and rating of ataxia (SARA) and 606 patients on the International Cooperative Ataxia Rating Scale (ICARS) were included. These RCTs showed a serious risk of bias (RoB) and low certainty of evidence for both outcomes. NIBS significantly reduced SARA (MD = -2.49, [95% confidence interval: -3.34, -1.64]) and ICARS (-5.27 [-7.06, -3.47]); the subgroup analysis showed significant effects: rTMS and tES reduced both outcomes. However, there were no significant differences in the effects of rTMS and tES. Additional subgroup analysis indicated the impact of rTMS frequency and the total number of tES sessions on ataxia.

Conclusion: Non-invasive brain stimulation may reduce ataxia in DCA patients, but the estimated effect size may change in future studies because the RoB was serious and the certainty of evidence was low, and the heterogeneity was high. To establish evidence for selecting NIBS methods and parameters, continued high-quality RCTs are required.

Background: Exercise potentially improves gait, balance, and habitual physical activity in Parkinson's disease (PD). However, given the heterogeneous nature of the disease, it is likely that people respond differently to exercise interventions. Factors determining responsiveness to exercise interventions remain unclear.

Objectives: To address this uncertainty, we explored the responsiveness to our highly challenging balance and gait intervention (HiBalance) in people with PD.

Methods: Thirty-nine participants with mild-moderate PD who underwent the HiBalance intervention from our randomized controlled trial were included. We defined response in three domains: (1) balance based on Mini-BESTest, (2) gait based on gait velocity, and (3) physical activity based on accelerometry-derived steps per day. In each domain, we explored three responsiveness levels: high, low, or non-responders according to the change from pre- to post-intervention. Separate Random Forests for each responder domain classified these responsiveness levels and identified variable importance.

Results: Only the Random Forest for the balance domain classified all responsiveness levels above the chance level indicated by a Cohen's kappa of "slight" agreement. Variable importance differed among the responsiveness levels. Slow gait velocity indicated high responders in the balance domain but showed low probabilities for low and non-responders. For low and non-responders, fall history or no falls, respectively, were more important.

Conclusions: Among three responder domains and responsiveness levels, we could moderately classify responders in the balance domain, but not for the gait or physical activity domain. This can guide inclusion criteria for balance-targeted, personalized intervention studies in people with PD.

Background: Progressive supranuclear palsy (PSP) is a progressive atypical parkinsonian condition that results in severe disability. There are few studies of PSP in patients of non-white European ancestry.

Objectives: We aim to perform deep phenotyping in a South Asian PSP cohort to uncover possible ethnic differences in disease characteristics.

Methods: Consecutive PSP patients had their clinical records reviewed for clinical features operationalized in the Movement Disorder Society (MDS)-PSP diagnostic criteria and relevant investigations, including imaging and genetic tests. Clinical variables were summarized by descriptive statistics and Kaplan-Meier curves were generated for survival analysis.

Results: Twenty-seven patients, comprising Indians (78%), Pakistanis (11%) and Sri Lankans (11%) were included. Mean age of symptom onset was 63.8 ± 7.0 years and 22% of patients had an early age of onset (<60 years). The most common presenting symptom was parkinsonism (56%), followed by cognitive dysfunction (37%), falls (33%) and dysarthria (26%). The predominance types at final review were distributed across PSP-RS (67%), PSP-PGF (15%), PSP-P (15%) and PSP-F (4%). Atypical clinical features like cerebellar signs (33%), REM-sleep behavior disorder (RBD) (55%), visual hallucinations (22%), and a family history of parkinsonism (20%) were evident in a proportion of patients.

Conclusions: We present a South Asian cohort of PSP patients with a higher than previously reported percentages of early-onset disease, family history and atypical clinical manifestations. These patients do not fit easily into the PSP phenotypes defined by the current MDS criteria. Dedicated clinicopathological and genetic tests are needed in this population to dissect the pathogenesis of clinically-defined PSP.

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: Patient-centered care for persons with Parkinson's disease (PwPD) is associated with positive outcomes, but is lacking in current healthcare systems.

Objective: In this qualitative study, we solicited advice from PwPD to medical professionals, family members/friends, and newly-diagnosed PwPD.

Methods: Through an online survey, 275 PwPD answered open-ended questions asking for their advice. Responses were analyzed using content analysis. Interrater reliability was 94.5%.

Results: Three qualitative themes were identified. First, participants advised enhancing care and communication, with healthcare professionals balancing clinical constraints with compassion, and family/friends balancing support with appreciating autonomy of PwPD. The second theme was empowering PwPD through increasing their knowledge of the disease and care options. The third reflected the importance of focusing on well-being and connection.

Conclusion: The results highlight several gaps in meeting the needs of PwPD in healthcare settings and personal relationships, underscoring the importance of integrating their perspectives in shaping approaches to care.