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Abdominal Segmental Myoclonus Resembling Belly Dancer Dyskinesia: An Autopsy-Proven Case. 腹部节段性肌阵挛类似于肚皮舞者运动障碍:一个尸检证实的病例。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-29 DOI: 10.1002/mdc3.70546
Yuki Takeda, Yoshikatsu Noda, Munenori Iwamoto, Kakuya Nagata, Yoshimitsu Shimatani, Shuichi Tsukamoto, Yukihiro Imai, Hiroyuki Ishihara
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引用次数: 0
Reduced Dopamine Transporter Uptake in Dentatorubral-Pallidoluysian Atrophy. 齿状体-苍白球萎缩中多巴胺转运蛋白摄取减少。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1002/mdc3.70541
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama
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引用次数: 0
Feasibility of Remote Blood Collection Using Tasso+ in the PREDICT-PD Study. Tasso+远程采血在PREDICT-PD研究中的可行性
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1002/mdc3.70504
Brook Huxford, Sophie Meyer, Harneek Chohan, Anisa Shahid, Ruby Lathey, Rita Benabderrazik, Alastair J Noyce
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引用次数: 0
Isolated Segmental Face and Neck Myoclonus Associated with Ceftriaxone. 头孢曲松所致孤立节段性面颈肌阵挛。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-21 DOI: 10.1002/mdc3.70527
Michael Li, Aaron De Souza
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引用次数: 0
Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease-Behavioral Questionnaire. 使用亨廷顿舞蹈病行为问卷捕捉亨廷顿舞蹈病的行为症状。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-20 DOI: 10.1002/mdc3.70539
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E Gilbert, Jody Corey-Bloom

Background: The Huntington's Disease Behavioral Questionnaire (HD-BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD-BQ incorporates patient- and companion-reported versions.

Objective: Examine the utility of the HD-BQ in capturing behavioral symptoms in HD.

Methods: The HD-BQ was administered to 71 manifest HD patients and their companions, plus 71 healthy controls (HC). Differences in HD-BQ scores were examined using Mann-Whitney U and Wilcoxon signed-ranks tests.

Results: HD patients reported more severe behavioral symptoms than HC (p < 0.001). Companions reported more widespread and severe symptoms than patients (Z = -3.7, p < 0.001). The largest discrepancies were observed for cognitive items-difficulty shifting thoughts or activities (p < 0.001), concentrating (p = 0.002), keeping track of commitments (p = 0.006), judgment (p = 0.004), and indecisiveness (p = 0.022).

Conclusions: The HD-BQ captures a wide range of behavioral disturbances in HD. Companions consistently reported more frequent and severe symptoms than patients, likely reflecting patients' anosognosia.

背景:亨廷顿舞蹈病行为问卷(HD-BQ)捕捉认知、精神和功能领域产生的行为症状。认识到疾病感失认症在HD中的高流行率,HD- bq纳入了患者报告和同伴报告的版本。目的:探讨HD- bq在捕捉HD患者行为症状中的作用。方法:采用HD- bq对71例表现为HD的患者及其随行者,外加71例健康对照(HC)。HD-BQ分数的差异采用Mann-Whitney U和Wilcoxon符号秩检验。结果:HD患者报告的行为症状比HC更严重(p)。结论:HD- bq捕获了HD患者广泛的行为障碍。同伴报告的症状比患者更频繁和严重,可能反映了患者的病感失认。
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引用次数: 0
MRI Assessment of Nigrosome in Parkinson's Disease: Is it Currently a Valuable Tool in Clinical Practice? 帕金森病黑素体的MRI评估:目前在临床实践中是一个有价值的工具吗?
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-19 DOI: 10.1002/mdc3.70530
Agustina Ruiz Yanzi, José Á Pineda-Pardo, Elena Natera-Villalba, José A Obeso, Michele Matarazzo

Background: Dopaminergic neuron loss in the substantia nigra, particularly the nigrosomes, characterizes Parkinson's disease (PD). Nigrosome-1 absence on MRI has emerged as a potential PD biomarker.

Objectives: Assess the diagnostic accuracy of nigrosome-1 detection for differentiating PD from essential tremor (ET) in clinical practice.

Methods: Movement disorder neurologists without nigrosome evaluation experience, randomized into receiving or not training, assessed 3 Tesla MRIs from PD and ET patients. PD was defined by absence of at least one nigrosome. Diagnostic accuracy measures and inter-rater agreement were calculated.

Results: Seventy-two MRIs were included (43 PD, 29 ET). Mean sensitivity, specificity, and accuracy were 78.2% (95% confidence interval: 71.2-85.3), 56.7% (50.0-64.0), 69.5% (65.3-73.9), without significant differences between groups. Specificity (P = 0.002) and accuracy (P = 0.029) increased with rating experience.

Conclusions: Nigrosome assessment in routine MRI by inexperienced raters showed limited diagnostic performance, yet may improve with optimized protocols and continued practice.

背景:多巴胺能神经元在黑质,特别是黑素体的丢失是帕金森病(PD)的特征。MRI上黑素体-1缺失已成为潜在的帕金森病生物标志物。目的:评价黑素体-1检测在临床上鉴别PD与特发性震颤(ET)的诊断准确性。方法:无黑体评估经验的运动障碍神经科医师,随机分为接受训练和未接受训练两组,对PD和ET患者的3例特斯拉mri进行评估。PD的定义是缺少至少一个黑染色体。计算诊断准确度测量值和评分者间一致性。结果:包括72张mri (PD 43张,ET 29张)。平均灵敏度、特异度、准确度分别为78.2%(95%可信区间:71.2 ~ 85.3)、56.7%(50.0 ~ 64.0)、69.5%(65.3 ~ 73.9),组间差异无统计学意义。特异性(P = 0.002)和准确性(P = 0.029)随评分经验的增加而增加。结论:没有经验的评分者在常规MRI中进行黑体评估的诊断效果有限,但可以通过优化方案和持续实践来提高。
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引用次数: 0
Genetic and Pathological Testing Attitudes for Parkinson's Disease in At-Risk Relatives. 高危亲属帕金森病的遗传和病理检测态度。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-19 DOI: 10.1002/mdc3.70535
Tal Weil, Anat Mirelman, Roy N Alcalay, Nurit Omer, Penina Ponger, Avner Thaler

Background: Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α-synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals. As preventive strategies remain unavailable, it is important to understand at-risk individuals' attitudes toward disclosure of genetic and biomarker information.

Objectives: To examine awareness, emotional responses, and behavioral intentions among first-degree relatives of PD patients who underwent genetic testing and counseling.

Methods: A cross-sectional questionnaire was administered to first-degree relatives tested and counseled at Tel Aviv Sourasky Medical Center. The survey assessed recall of testing and results, adequacy of information, emotional reactions, willingness to undergo biological testing (blood vs. lumbar puncture), and readiness to modify lifestyle following positive biomarker results.

Results: Among 240 non-manifesting relatives (NMNC = 145; LRRK2 = 40; GBA1 = 49; dual = 6; 72% response), the mean interval from testing to survey was 5.3 ± 2.4 years. Despite prior counseling, only 70.3% recalled being tested and 66.5% remembered results. About half felt adequately informed about PD (50.9%) and their genetic status (53.7%). Willingness for blood testing was high (86.6%) but lower for lumbar puncture (41.5%). Mutation carriers reported greater distress, while 87.6% indicated readiness to adopt lifestyle changes if results were positive.

Conclusions: First-degree relatives favored minimally invasive testing and showed strong motivation for lifestyle adaptation. Limited recall of results highlights the need for improved communication and ongoing counseling in preventive neurology.

背景:帕金森病(PD)越来越被认为是一种神经退行性疾病,具有广泛的临床谱系和多种生物标志物,可以早期发现。α-突触核蛋白种子扩增试验(SAA)和基因检测现在可以在无症状个体中识别PD病理。由于预防策略仍然不可用,了解高危个体对披露遗传和生物标志物信息的态度是很重要的。目的:研究PD患者一级亲属接受基因检测和咨询后的认知、情绪反应和行为意图。方法:采用横断面调查问卷对在特拉维夫苏拉斯基医疗中心接受检测和咨询的一级亲属进行调查。该调查评估了测试和结果的回忆,信息的充分性,情绪反应,接受生物测试的意愿(血液与腰椎穿刺),以及在生物标志物阳性结果后改变生活方式的意愿。结果:240例无症状亲属(NMNC = 145, LRRK2 = 40, GBA1 = 49, dual = 6, 72%应答),从检测到调查的平均间隔时间为5.3±2.4年。尽管事先有咨询,但只有70.3%的人记得接受过测试,66.5%的人记得结果。大约一半的人(50.9%)对PD及其遗传状况(53.7%)有充分的了解。血检意愿高(86.6%),腰椎穿刺意愿低(41.5%)。突变携带者报告了更大的痛苦,而87.6%的人表示,如果结果是阳性的,他们愿意改变生活方式。结论:一级亲属倾向于微创检查,并表现出强烈的生活方式适应动机。结果的有限回忆强调了在预防神经学中改进沟通和持续咨询的必要性。
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引用次数: 0
Deep Brain Stimulation of the Internal Pallidum Modulates the Mesencephalic Locomotor Pathway in Improved Cervical Dystonic Patients. 脑深部刺激内白质调节中脑运动通路改善颈张力障碍患者。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-16 DOI: 10.1002/mdc3.70518
Gaetan Poulen, Nicolas Tempier, Gizem Temiz, Sara Fernandez Vidal, Soledad Navarro, Marie Vidailhet, Philippe Coubes, Brian Lau, Marie-Laure Welter, Elodie Hainque, Carine Karachi

Background: Deep brain stimulation of the internal globus-pallidus (GPi-DBS) improves focal dystonia, often incompletely. GPi-DBS modulates pallido-thalamo-cortical pathways; however, involvement of descending pathways, including the mesencephalic locomotor region (MLR), has been proposed.

Objectives: To investigate structural connectivity for predicting outcomes.

Methods: We retrospectively analyzed 21 focal dystonia patients with GPi-DBS. Dystonia was assessed pre- and postoperatively. Contacts were localized, volumes of tissue activated (VTA) modeled, and structural connectivity quantified using probabilistic tractography and each patient's VTA to filter a normative connectome from two healthy cohorts.

Results: GPi-DBS induced mean improvement of 48.2% (SD 37.4%) in TWSTRS (p = 0.0003) and 26.7% (SD 63.4%) in BFMDRS (p = 0.068) in cervical dystonia patients. The sweet-spot was within sensorimotor GPi. For the 15 cervical dystonia patients, VTA-MLR connectivity positively correlated with TWSTRS improvement (p = 0.048), with no significant VTA-thalamic connectivity association (p > 0.30).

Conclusions: Cervical dystonia improvement depends on the GPi-MLR pathway, supporting tractography to optimize DBS efficacy.

背景:深部脑刺激内苍白球(GPi-DBS)可改善局灶性肌张力障碍,但通常不完全改善。GPi-DBS调节苍白球-丘脑-皮层通路;然而,下行通路的参与,包括中脑运动区(MLR),已经提出。目的:研究结构连通性对预后的预测作用。方法:回顾性分析21例GPi-DBS局灶性肌张力障碍患者。术前和术后评估肌张力障碍。接触定位,组织激活体积(VTA)建模,并使用概率束状图和每个患者的VTA来量化结构连接,从两个健康队列中过滤出一个规范的连接组。结果:GPi-DBS诱导颈肌张力障碍患者TWSTRS平均改善48.2% (SD 37.4%) (p = 0.0003), BFMDRS平均改善26.7% (SD 63.4%) (p = 0.068)。最佳点在感觉运动GPi范围内。15例颈肌张力障碍患者,VTA-MLR连通性与TWSTRS改善呈正相关(p = 0.048), vta -丘脑连通性无显著相关性(p = 0.30)。结论:颈肌张力障碍的改善依赖于GPi-MLR通路,支持导管造影优化DBS疗效。
{"title":"Deep Brain Stimulation of the Internal Pallidum Modulates the Mesencephalic Locomotor Pathway in Improved Cervical Dystonic Patients.","authors":"Gaetan Poulen, Nicolas Tempier, Gizem Temiz, Sara Fernandez Vidal, Soledad Navarro, Marie Vidailhet, Philippe Coubes, Brian Lau, Marie-Laure Welter, Elodie Hainque, Carine Karachi","doi":"10.1002/mdc3.70518","DOIUrl":"https://doi.org/10.1002/mdc3.70518","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation of the internal globus-pallidus (GPi-DBS) improves focal dystonia, often incompletely. GPi-DBS modulates pallido-thalamo-cortical pathways; however, involvement of descending pathways, including the mesencephalic locomotor region (MLR), has been proposed.</p><p><strong>Objectives: </strong>To investigate structural connectivity for predicting outcomes.</p><p><strong>Methods: </strong>We retrospectively analyzed 21 focal dystonia patients with GPi-DBS. Dystonia was assessed pre- and postoperatively. Contacts were localized, volumes of tissue activated (VTA) modeled, and structural connectivity quantified using probabilistic tractography and each patient's VTA to filter a normative connectome from two healthy cohorts.</p><p><strong>Results: </strong>GPi-DBS induced mean improvement of 48.2% (SD 37.4%) in TWSTRS (p = 0.0003) and 26.7% (SD 63.4%) in BFMDRS (p = 0.068) in cervical dystonia patients. The sweet-spot was within sensorimotor GPi. For the 15 cervical dystonia patients, VTA-MLR connectivity positively correlated with TWSTRS improvement (p = 0.048), with no significant VTA-thalamic connectivity association (p > 0.30).</p><p><strong>Conclusions: </strong>Cervical dystonia improvement depends on the GPi-MLR pathway, supporting tractography to optimize DBS efficacy.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989969","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}
引用次数: 0
Dropped Head Syndrome Unmasking Myotonic Dystrophy Type 1 in a Patient with Parkinson's Disease: A Case Report and a Case-Based Review. 帕金森病患者1型肌强直性营养不良的低头综合征:一个病例报告和基于病例的回顾
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-16 DOI: 10.1002/mdc3.70524
Michele Giovanni Croce, Francesca Valentino, Emanuele Micaglio, Sara Benedetti, Matteo Paoletti, Giuseppe Cosentino, Sabrina Ravaglia
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引用次数: 0
Considerations for Initiation and Maintenance of Foslevodopa/Foscarbidopa for Advanced Parkinson's Disease. 晚期帕金森病开始和维持Foslevodopa/Foscarbidopa的考虑。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-16 DOI: 10.1002/mdc3.70489
K Ray Chaudhuri, Bruno Bergmans, Eric Freire-Alvarez, Lucie Hopes, Drew S Kern, Robert S Kirsner, Giulia Lazzeri, Pedro Mendes-Bastos, Noriko Nishikawa, Per Odin, Karolina Poplawska-Domaszewicz, Rajesh Pahwa, Yuval Ramot, Klaus Seppi, Tobias Warnecke, Robert Wiggins, Megha B Shah, Pavnit Kukreja, Bjoern Fritz, Koray Onuk, Stuart H Isaacson

Background: As Parkinson's disease (PD) progresses, motor fluctuations become increasingly difficult to manage with oral medications. Foslevodopa/foscarbidopa (LDp/CDp), delivered as a continuous 24-h/day subcutaneous infusion, offers continuous levodopa delivery and stable plasma levodopa levels that reduce motor fluctuations. LDp/CDp has been widely utilized since becoming commercially available.

Objectives: To provide practical guidance for clinicians on the real-world use of LDp/CDp, including information on patient selection, treatment initiation, dose adjustments, and long-term management.

Methods: This narrative review included investigator experience from studies of LDp/CDp and insights from clinicians with real-world experience with LDp/CDp, addressing many critical questions that clinicians may have when initiating and managing patients on therapy.

Results: Continuous 24-h infusion enables consistent, individualized symptom control, with improvements in motor fluctuations and quality of life. LDp/CDp therapy can be initiated, adjusted, and maintained in outpatient settings without hospitalization. While infusion site events are common, they are typically mild to moderate and manageable. Early detection and intervention are important for managing infusion site events. Systemic adverse events associated with dopaminergic therapies (eg, psychosis, hallucinations, nightmares), may require infusion rate adjustment, particularly at night. Setting clear expectations is key to successful therapy adoption and maintenance. It is essential to educate patients, care partners, and clinical teams.

Conclusions: LDp/CDp is a new treatment option for advanced PD (aPD). Treatment success depends on education, selecting appropriate patients, setting patient expectations, implementing individualized dosing strategies, and managing adverse effects.

背景:随着帕金森病(PD)的进展,运动波动越来越难以通过口服药物来控制。Foslevodopa/foscarbidopa (LDp/CDp)连续24小时/天皮下输注,提供持续的左旋多巴输送和稳定的血浆左旋多巴水平,减少运动波动。自商业化以来,LDp/CDp得到了广泛的应用。目的:为临床医生提供实际使用LDp/CDp的指导,包括患者选择、治疗开始、剂量调整和长期管理的信息。方法:这篇叙述性综述包括研究者从LDp/CDp研究中获得的经验和临床医生对LDp/CDp的实际经验的见解,解决了临床医生在启动和管理患者治疗时可能遇到的许多关键问题。结果:连续24小时输注可实现一致的个体化症状控制,改善运动波动和生活质量。LDp/CDp治疗可以在不住院的门诊环境中开始、调整和维持。虽然输液部位的事件是常见的,但它们通常是轻度至中度和可控的。早期发现和干预对于处理输液部位事件非常重要。与多巴胺能治疗相关的全身不良事件(如精神病、幻觉、噩梦)可能需要调整输液速率,特别是在夜间。设定明确的期望是成功采用和维持治疗的关键。对患者、护理伙伴和临床团队进行教育至关重要。结论:LDp/CDp是晚期PD (aPD)治疗的新选择。治疗的成功取决于教育、选择合适的患者、设定患者期望、实施个体化给药策略和管理不良反应。
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引用次数: 0
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Movement Disorders Clinical Practice
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