Journal of Movement Disorders最新文献

{"title":"Reversible Dropped Head Syndrome Due to Olanzapine-Associated Cervical Dystonia in a Patient With C9orf72-Associated bvFTD Within the FTD-ALS Spectrum.","authors":"Rik Spons","doi":"10.14802/jmd.26048","DOIUrl":"10.14802/jmd.26048","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"341-343"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147773778","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":"Rehabilitation Gaps and Unmet Needs Across Disability Stages in Patients With Parkinson's Disease: A National Survey.","authors":"Yohei Okada, Yuki Kondo, Kyohei Mikami, Kazunori Sato, Makoto Sawada, Takayo Chuma","doi":"10.14802/jmd.26024","DOIUrl":"10.14802/jmd.26024","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"337-340"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13469441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645653","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":"Serum Neuronal Extracellular Vesicles for RT-QuIC Assays to Detect Pathological α-Synuclein in Synucleinopathies.","authors":"Hye Joung Choi, Dong Gyun Ko, JeKuk Yu, Nguyen Thi Hai Thanh, Hyeo-Il Ma, Young Eun Kim","doi":"10.14802/jmd.26054","DOIUrl":"10.14802/jmd.26054","url":null,"abstract":"<p><strong>Objective: </strong>Pathological α-synuclein aggregation is a key finding in synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies, and multiple system atrophy. The real-time quaking-induced conversion (RT-QuIC) assay using cerebrospinal fluid (CSF) can sensitively detect pathological α-synuclein aggregates and is supported by a strong biological rationale. However, the invasive nature of CSF collection limits its clinical utility. A blood-based RT-QuIC assay is therefore of growing interest; although evidence remains limited, it has shown good performance in distinguishing patients with PD from healthy controls (HCs). In this study we investigated pathological α-synuclein aggregates in the neuron-derived extracellular vesicles (nEVs) isolated from serum samples of patients with synucleinopathies and HCs.</p><p><strong>Methods: </strong>Serum samples were collected from patients diagnosed with synucleinopathies and HCs without neurological disorders. Total extracellular vesicles (EVs) were isolated from serum using an ExoQuick kit, after which nEVs were isolated via L1-cell adhesion molecule immunocapture. The identity of the nEVs was confirmed by transmission electron microscopy (TEM), nanoparticle tracking analysis (NTA), and western blotting. Pathological α-synuclein aggregates in EVs were assessed by western blotting, dot blotting, and RT-QuIC assays.</p><p><strong>Results: </strong>The concentration and abundance of EVs were comparable between the PD and HC groups. TEM and NTA confirmed EV morphology and size distribution, and western blotting validated the neuronal quality of the nEVs. Compared with those from HCs, nEVs from patients with synucleinopathies showed higher levels of phosphorylated or aggregated α-synuclein. Optimized RT-QuIC conditions using nEV enabled preliminary discrimination of synucleinopathy from HC with nEVs, with distinct kinetic profiles observed between groups.</p><p><strong>Conclusion: </strong>Serum-derived nEVs represent a promising, minimally invasive seed source for RT-QuIC assays, offering robust diagnostic performance for the detection of synucleinopathies and potential applicability in broader clinical settings.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"304-312"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147973050","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":"Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype-Phenotype Correlation.","authors":"Madathum Kuzhiyil Farsana, Vikram V Holla, Mit Ankur Raval, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.25336","DOIUrl":"10.14802/jmd.25336","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"330-333"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147271096","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":"Expanding the Phenotype: Myoclonus-Dystonia as a Novel Manifestation of 47,XXX Syndrome.","authors":"Lakshmi Priya Lalitha, Asish Vijayaraghavan, Kiren George Koshy, Sayooja Sachithanandan, Divya Kalikavil Puthenveedu, Syam Krishnan","doi":"10.14802/jmd.26045","DOIUrl":"10.14802/jmd.26045","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"344-345"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839012","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":"Distinct and Combined Cognitive Profiles Associated With Depression and Anxiety in Patients With Early Parkinson's Disease.","authors":"Hak-Loh Lee, Seong-Min Choi, Soo Hyun Cho, Byeong C Kim","doi":"10.14802/jmd.26076","DOIUrl":"10.14802/jmd.26076","url":null,"abstract":"<p><strong>Objective: </strong>Cognitive impairment is a major nonmotor manifestation of Parkinson's disease (PD), and mood disorders, including depression and anxiety, are being increasingly recognized as potentially modifiable contributors to cognitive decline. However, studies simultaneously evaluating the individual and combined effects of depression and anxiety on specific cognitive domains in PD remain limited.</p><p><strong>Methods: </strong>One hundred forty-nine patients with early- to mid-stage PD were stratified by depression (Beck Depression Inventory≥14) and anxiety (Beck Anxiety Inventory≥8) status. Cognitive performance was evaluated using the Seoul Neuropsychological Screening Battery. Group differences were analyzed using analyses of covariance, adjusting for education, Hoehn and Yahr stage, and Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale motor scores, followed by Bonferroni correction for multiple testing.</p><p><strong>Results: </strong>After adjustment for covariates, depression was associated with impaired verbal recognition memory (p=0.009), although this association did not survive Bonferroni correction. Conversely, anxiety-related deficits in immediate visual recall (p= 0.006) and inhibitory executive control (p=0.016) remained robustly significant even after rigorous correction. Patients with comorbid depression and anxiety exhibited the most pervasive cognitive impairment, including statistically significant deficits in both visual memory and frontal executive function (all adjusted p<0.05).</p><p><strong>Conclusion: </strong>Depression and anxiety exert distinct yet additive detrimental effects on cognition in patients with early PD. While anxiety and comorbid symptoms show robust associations with visuospatial and executive deficits, the impact of isolated depression appears less statistically stable under conservative thresholds. These findings underscore the importance of early neuropsychiatric screening and targeted intervention, which may be associated with the maintenance of cognitive health in patients with PD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"313-321"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148225927","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":"TBC1D2B-Related Neurodevelopmental Disorder With Gingival Overgrowth and Movement Disorders: A Case Series and Literature Review.","authors":"Farsana Mustafa, Jacky Ganguly, Ayush Agarwal, Sayoni Roy Chowdhury, Surojit Ruidas, Ajay Garg, Debayan Dutta, Divya M Radhakrishnan, Hrishikesh Kumar, Achal Kumar Srivastava, Divyani Garg","doi":"10.14802/jmd.26091","DOIUrl":"10.14802/jmd.26091","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"356-359"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352339","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":"Myotonic dystrophy type 1 with normal pressure hydrocephalus-like neuroimaging and a negative tap test: diagnostic pitfalls and management considerations.","authors":"Deep Faldu, Naresh Babu, Vikram V Holla, Shweta Prasad, Meera Purushottam, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.26029","DOIUrl":"https://doi.org/10.14802/jmd.26029","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147773775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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}