Movement Disorders最新文献

Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK-GBA1) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to Gaucher's disease (GD). This MDSGene systematic literature review covers 27,963 patients carrying GBA1 variants from 1082 publications with 794 variants, including 13,342 patients with PD or other forms of parkinsonism. It provides a comprehensive overview of demographic, clinical, and genetic findings from an ethnically diverse sample originating from 82 countries across five continents. The most frequent pathogenic or likely pathogenic variants were “N409S” (aka “N370S”; dominating among Jewish and Whites), and “L483P” (aka “L444P”; dominating among Asians and Hispanics), whereas the most common coding risk variants were “E365K” (E326K), and “T408M” (T369M) (both common among Whites). A novel finding is that early-onset PD patients were predominantly of Asian ethnicity, whereas late-onset PD patients were mainly of White ethnicity. Motor cardinal features were similar between PD patients and other forms of parkinsonism, whereas motor complications and non-motor symptoms were more frequently reported in PD patients carrying “severe” variants than in those with “risk” or “mild” variants. Cognitive decline was reported in most patients after surgical treatment, despite achieving a beneficial motor function response. Most GD patients developing PD harbored the “N409S” variant, were of Ashkenazi Jewish ethnicity, and showed a positive response to chronic levodopa treatment. With this review, we start to fill the gaps regarding genotype–phenotype correlations in GBA1 variant carriers, especially concerning PD. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Movement disorders after dengue virus (DENV) infection have been increasingly recognized. We aimed to synthesize the clinical and paraclinical characteristics, treatment responses, and outcomes of these neurologic complications. We systematically reviewed PubMed, Embase, Scopus, and LILACS databases up to September 2023 following a published protocol. We identified 73 cases of DENV-induced movement disorders. Cerebellar ataxia was the most common, followed by parkinsonism, opsoclonus–myoclonus–ataxia syndrome, and dystonia. Movement disorders typically developed within 14 days of DENV infection and were associated with a range of neurological symptoms, including cognitive impairment and psychiatric disturbances. Neuroimaging studies frequently showed abnormalities in the basal ganglia and brainstem. Treatment varied depending on the specific movement disorder and included corticosteroids, intravenous immunoglobulin, and symptomatic medications. Whereas a handful of cases met the criteria for acute encephalitis, many lacked sufficient data to establish a definitive diagnosis. Para-infectious and postinfectious immune-mediated movement disorders were also reported. A rare case of chronic progressive panencephalitis due to DENV infection highlights the potential for long-term neurological consequences. Other DENV-related complications, such as stroke, pituitary apoplexy, subacute thyroiditis, and metabolic disturbances, can also cause movement disorders. We emphasize the importance of recognizing the diverse neurological manifestations of DENV infection and the need for further research to improve our understanding of the underlying mechanisms and optimize treatment strategies. We propose a more rigorous approach to determining the causality between infection and movement disorder, demanding stronger evidence beyond mere association and advocating for targeted research to fill the existing knowledge gaps. © 2025 International Parkinson and Movement Disorder Society.

Background: The Movement Disorders Society Unified Parkinson Disease Rating Scale (MDS-UPDRS), Part III, is the gold standard for assessing motor symptoms in Parkinson's disease (PD). However, motor symptoms fluctuate significantly from day to day, potentially limiting the sensitivity of this scale for trials with short duration and crossover designs. This study investigated whether day-to-day variability in motor symptoms exceeds the minimal clinically important difference (MCID) in the MDS-UPDRS, Part III.

Methods: Twenty PD participants (Hoehn & Yahr stages 1.5-3) underwent 10 weekly off-medication assessments by one assessor on the same morning. Several determinants of day-to-day variability were explored.

Results: Symptom variability often exceeded the MCID for worsening and improvement. Current mental stress and fatigue did not correlate with worse scores, nor did physical activity and sleep quality in the previous week.

Conclusions: These findings suggest that day-to-day symptom variability impacts MDS-UPDRS scores in smaller and shorter-duration trials of symptomatic interventions. Continuous monitoring using wearable sensors may offer more accurate and reliable measures for evaluating PD motor symptoms in clinical studies. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Background: Pallidal neurostimulation is an effective treatment for severe isolated dystonia, but long-term data from clinical trials are lacking.

Objectives: To evaluate long-term efficacy and safety of pallidal neurostimulation in patients with isolated generalized or segmental dystonia.

Methods: Extension study of the prospective multicenter trial (n = 40; July 2002 to May 2004), all patients received effective stimulation and underwent regular follow-up. The 10-year follow-up (n = 31) included Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability score, Beck Depression Inventory, Beck Anxiety Inventory, and Mattis Dementia Rating Scale. Primary and secondary endpoints compared motor symptoms, disability scores, mood, and cognition changes.

Results: Thirty-one patients (12 female), aged 23-72 years, completed the 10-year study extension. Per protocol analysis showed sustained significant improvement in BFMDRS motor scores at 10 years compared with baseline, without significant change from the 6-month or 5-year follow-up. On average, motor scores decreased by 25.3 ± 5.2 points at 10 years (P < 0.0001; 56% improvement). Individual outcomes varied, with 27 responders (≥25% improvement; mean improvement 65.2 ± 21.4%) and 13 non-responders compared with baseline. Sustained improvements were seen in disability, mood, and anxiety scores. Cognition remained stable.

Conclusions: This study presents the longest prospective, multicenter follow-up of pallidal neurostimulation in generalized and segmental dystonia. Two-thirds of patients showed strong and stable long-term improvements of dystonia, confirming sustained efficacy and safety over 10 years in treatment-refractory dystonic patients. However, one-third experienced primary (3/40) or secondary (10/40) treatment failure. Diagnostic advances, including genetic testing, and technological progress in pallidal neurostimulation may help to reduce the non-responder rates in the future. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.