Journal of Movement Disorders最新文献

{"title":"Neuropsychiatric and Cognitive Safety of Subcutaneous Foslevodopa/Foscarbidopa in Advanced Parkinson's Disease: Insights From a Real-World Cohort.","authors":"Clément Desjardins, Hélène de Saint Vaulry, Quentin Salardaine, Céline Rosset, Jean-Philippe Brandel, Guillaume Baille","doi":"10.14802/jmd.25304","DOIUrl":"10.14802/jmd.25304","url":null,"abstract":"<p><strong>Objective: </strong>Continuous subcutaneous foslevodopa/foscarbidopa infusion (CSFLI) represents a transformative therapy for advanced Parkinson's disease (aPD), but real-world neuropsychiatric safety data remain limited, particularly in populations typically excluded from clinical trials. This study aimed to assess the frequency, clinical patterns, and predictors of neuropsychiatric and/or cognitive worsening in a real-world CSFLI-treated cohort.</p><p><strong>Methods: </strong>We performed a retrospective observational study involving 36 consecutive aPD patients who underwent CSFLI with a six-month follow-up. Neuropsychiatric/cognitive worsening was defined as any clinically meaningful increase in the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part I or the Parkinson's Disease Questionnaire-8 (PDQ-8) cognitive/psychiatric subscores. Patients were classified as \"worsening\" versus \"no worsening\" and compared with respect to baseline characteristics. Predictors were identified using univariable and exploratory multivariable analyses.</p><p><strong>Results: </strong>Seventeen patients (47.2%) experienced neuropsychiatric/cognitive worsening within six months. Critically, patients with prior confusion or hallucinations who were managed with baseline clozapine had significantly better outcomes: confusion history was common in 57.9% of the patients in the stable group versus 11.8% in the worsening group (p=0.006), with clozapine use corresponding to 63.2% of the patients versus 23.5% (p=0.023). Conversely, catechol-O-methyltransferase inhibitor (COMT-I) use was more frequent in the worsening group (70.6% vs. 21.1%, p=0.006). Motor outcomes remained stable at 6 months regardless of the patient's neuropsychiatric status.</p><p><strong>Conclusion: </strong>In a vulnerable real-world aPD population, neuropsychiatric/cognitive worsening under CSFLI was more frequent than it was in pivotal trials (47% vs. 7%-17%) but was generally mild and not associated with motor deterioration. Importantly, proactive clozapine use enabled safe CSFLI treatment in patients with psychiatric histories traditionally considered high risk. COMT-I emerged as a modifiable risk factor. These findings support broader CSFLI use with structured neuropsychiatric monitoring and proactive clozapine in selected patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"178-186"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146046732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Subthreshold\" Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B).","authors":"Yuan Ye Beh, Roberta La Piana, Yi Wen Tay, Jun Ping Chua, Rose Izura Abdul Hamid, Jeffrey Wei Yang Tee, Andrew Leslie Lee, Akmal Mukhlis Abdul Sahak, Jie Ping Schee, Khean Jin Goh, Pablo Iruzubieta, Ai Huey Tan, David Pellerin, Shen-Yang Lim","doi":"10.14802/jmd.25290","DOIUrl":"10.14802/jmd.25290","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"228-231"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Landscape of Parkinson's Disease Treatment in India: A National Cross-Sectional Survey of Clinical Practitioners.","authors":"Roopa Rajan, Hrishikesh Kumar, Divya M Radhakrishnan, Divyani Garg, Shreyashi Jha, Jacky Ganguly, Sreenivas U Meenakshisundaram, Niraj Kumar, Vikram V Holla, Soaham Desai, Ravi Yadav, Achal Kumar Srivastava, Asha Kishore, Pramod Kumar Pal","doi":"10.14802/jmd.25201","DOIUrl":"10.14802/jmd.25201","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"212-216"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effective Botulinum Toxin Treatment in Patients With Different Patterns of Cervical Dystonia: A Retrospective SPECT and EMG Study.","authors":"Hongkai Gu, Yougui Pan, Lizhen Pan, Xiaolong Zhang, Ronghua Hong, Zhuang Wu, Chenghong Wang, Shuzhen Chen, Lingjing Jin, Fei Teng","doi":"10.14802/jmd.25186","DOIUrl":"10.14802/jmd.25186","url":null,"abstract":"<p><strong>Objective: </strong>The Col-Cap classification for cervical dystonia (CD) has been proposed to optimize treatment strategies with botulinum toxin type A (BTX-A). Although this concept has been used for 15 years, the efficacy of BTX-A in various CD patterns remains unclear. The present study compared the efficacy of BTX-A, aided by single-photon emission computed tomography (SPECT) and electromyography (EMG), in various CD patterns.</p><p><strong>Methods: </strong>CD patients who underwent SPECT scans to detect dystonic muscles were included. Candidate muscles were first selected based on clinical evaluation and abnormal radioactivity on SPECT imaging. All patients were injected under the guidance of EMG, and only candidate muscles with positive EMGs were injected. The efficacy of BTX-A was assessed via the subjective clinical improvement rate and the reduction in the Tsui score at four weeks after injection.</p><p><strong>Results: </strong>The study enrolled 252 patients. The subjective improvement rates were 63.5%±20.6% for simple types and 59.9%± 22.2% for complex types, and this difference was not significant (p=0.247). The reduction rates of the Tsui score did not differ between the simple type (52.4%±24.2%) and the complex type (49.6%±23.6%, p=0.556). Moreover, clinical improvement rates did not significantly differ within each group of simple subtypes, complex subtypes, or patients with different types of tremors (p>0.05).</p><p><strong>Conclusion: </strong>The efficacy of BTX-A treatment was comparable in different CD patterns because of the appropriate selection of dystonic muscles via SPECT and EMG. Therefore, employing multifaceted approaches to identify dystonic muscles can yield favorable outcomes, even in complex cases.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"145-156"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145556890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Technology for Sleep Symptoms in Parkinson's Disease: A Scoping Review.","authors":"Kye Won Park, Ki-Young Jung, Han-Joon Kim, Jung Hwan Shin","doi":"10.14802/jmd.26098","DOIUrl":"10.14802/jmd.26098","url":null,"abstract":"<p><p>Sleep disturbances are highly prevalent and clinically significant nonmotor features of Parkinson's disease (PD). Although in-laboratory polysomnography remains the gold standard method for investigating these disturbances, its limited scalability and ecological validity constrain longitudinal and real-world assessments. Recent advances in digital health technologies have introduced a broad spectrum of portable, wearable, and contactless tools for sleep monitoring. In this scoping review, we systematically map the landscape of digital sleep technologies in PD by using a tiered framework based on technical maturity and clinical validation (Tiers 1-4); moreover, we further classify them by signal modality and sleep symptom domain. Through a systematic review of the literature, we identified 19 studies (Tiers 2-4) that applied digital biomarkers to assess sleep disturbances in PD, including REM sleep behavior disorder, nocturnal immobility, insomnia, circadian rhythm disturbances, excessive daytime sleepiness, and sleep-related respiratory and movement disorders. We additionally contextualize these findings against the rapid expansion of multimodal and AI-driven Tier 3-4 platforms in the general population. Despite this technological progress, a major translational gap persists in PD, which is characterized by limited disease-specific validation, small cohort sizes, and insufficient multimodal benchmarking. Multimodal systems leveraging machine learning offer a promising direction by enabling the more precise characterization of complex and overlapping sleep phenotypes. Emerging contactless systems further expand the potential for continuous, low-burden monitoring, although their clinical validity remains to be established. Future development of digital sleep biomarkers in PD will require prospective validation against established standards and the integration of multimodal data to enable scalable, longitudinal phenotyping and clinical trial applications.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"119-134"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147674330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary for \"Longitudinal Implications of the BDNF rs6265 Polymorphism for Motor and Nonmotor Features of Parkinson's Disease in the Korean Population\".","authors":"Sun Ju Chung","doi":"10.14802/jmd.26071","DOIUrl":"10.14802/jmd.26071","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"242-243"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147473957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights From a Korean Series.","authors":"Yun Soo Kim, Soo-Yeon Kim, Yun-Jin Lee, Seung Hwan Oh, Seong-Min Choi, Jae-Hyeok Lee","doi":"10.14802/jmd.25281","DOIUrl":"10.14802/jmd.25281","url":null,"abstract":"<p><p>Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked disorder caused by pathogenic variants in the WDR45 gene. Early diagnosis remains challenging because of nonspecific presentations in childhood. We report six pediatric patients with BPAN identified through genetic testing performed during evaluations of neurodevelopmental disorders. All the participants were female and exhibited early developmental delay, severe language impairment, and varying degrees of motor dysfunction. Seizures occurred in four patients with varying severity. Two patients showed signs of central precocious puberty. Serum neuron-specific enolase levels were elevated in all tested patients. Brain magnetic resonance imaging (MRI) revealed corpus callosum thinning in all the patients. Iron accumulation in the substantia nigra and globus pallidus was observed in only two older patients. WDR45 variants included two nonsense mutations, two splice sites, one in-frame deletion, and one novel frameshift deletion. Our findings highlight early clinical features that may aid in recognizing BPAN prior to the emergence of distinctive MRI abnormalities or degenerative-phase manifestations.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"187-191"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlations.","authors":"Subhajit Roy, Ravindranadh Chowdary Mundlamuri, Seena Vengalil, Pritam Raja, Nalini Atchayaram, Ravi Yadav","doi":"10.14802/jmd.25268","DOIUrl":"10.14802/jmd.25268","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"221-224"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Pathological Features of CSF1R-Related Disorder Associated With the p.R777Q Pathogenic Variant.","authors":"Tomasz Chmiela, Delaney Liskey, Audrey J Strongosky, Stuart J McCarter, Paula Sandroni, Dennis W Dickson, Zbigniew K Wszolek","doi":"10.14802/jmd.25247","DOIUrl":"10.14802/jmd.25247","url":null,"abstract":"<p><strong>Objective: </strong>Colony-stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is a rapidly progressive neurodegenerative disease with a median onset of 43 years. More than 200 CSF1R pathogenic variants have been identified. Patients develop rapidly progressive dementia and motor symptoms, with a median disease duration of 6.8 years. The p.R777Q variant causes CSF1R-RD; it is deleterious to protein function. We describe the clinical and pathological features of CSF1R-RD associated with p.R777Q and report a new family carrying this variant. We compare the neuropathological findings of an index patient (with short-duration disease) with those of a patient with long-duration CSF1R-RD.</p><p><strong>Methods: </strong>We present clinical and imaging data from a new family with p.R777Q. We also describe the neuropathology of an index patient and contrast these findings with features of a patient with CSF1R-RD with an 11-year disease course caused by the c.2656_2657insC variant.</p><p><strong>Results: </strong>We reviewed the literature on 13 individuals from 8 families with the p.R777Q variant from Asia, Europe, and North America. The mean age at onset was 41±14 years, ranging from 22 to 63 years, and the mean survival was 3.3±2.5 years. Neuropathologic studies of our index patient (10-month disease duration) revealed features consistent with CSF1R-RD. Axonal and myelin pathology was severe in the periventricular white matter. Compared with the patient with an 11-year disease duration, the index patient had less severe white matter lesions.</p><p><strong>Conclusion: </strong>Compared with CSF1R-RD associated with other variants, the p.R777Q variant has an aggressive course. Compared with the patient with a long disease duration, the index patient had milder neuropathological findings. These differences may be specific to p.R777Q or associated with rapid clinical progression.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"135-144"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endurance and Efficiency of Cycling and Manual Wheelchairs in Late-Stage Parkinson's Disease: A Preliminary Study.","authors":"Mayura Konzo, Masaru Narita, Masaki Naito, Ayumi Ide, Taiyo Kai, Dai Wakabayashi, Wataru Fujita, Tomohiro Shibata, Yohei Okada","doi":"10.14802/jmd.25317","DOIUrl":"10.14802/jmd.25317","url":null,"abstract":"<p><strong>Objective: </strong>In late-stage Parkinson's disease (PD), wheelchair mobility becomes essential, yet little is known about the endurance and efficiency of wheelchairs. For individuals who struggle with manual wheelchair (MW) propulsion, a cycling wheelchair (CW) may provide an alternative. In this study, endurance and efficiency were compared between MWs and CWs during continuous driving, including turning tasks, in late-stage PD.</p><p><strong>Methods: </strong>Nine participants with late-stage PD performed the 6-minute push test using both MWs and CWs. Total distance, average speed, and the Physiological Cost Index (PCI) were measured. The PCI was calculated from the pre- and post-driving heart rates.</p><p><strong>Results: </strong>Compared with the use of MWs, the use of CWs resulted in a significantly greater total distance and a lower PCI, and similar patterns were observed among participants at Hoehn and Yahr stage V (n=6).</p><p><strong>Conclusion: </strong>Compared with MW use, CW use may enable more enduring and efficient mobility in late-stage PD. Further studies are needed to validate these preliminary findings.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"203-207"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}