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Post Deep Brain Stimulation Time Course of Aperiodic Activity in Childhood and Young Adult Dystonia. 儿童和青少年肌张力障碍患者接受脑深部刺激后的非周期性活动时程。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-11 DOI: 10.1002/mdc3.14159
Travis R Larsh, Donald L Gilbert, Sudhakar Vadivelu, Devin K Binder, Ernest V Pedapati, Steve W Wu
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引用次数: 0
Symptom Network Analysis in a Large Sample of Children and Adults with a Chronic Tic Disorder. 对大量患有慢性抽搐症的儿童和成人进行症状网络分析。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI: 10.1002/mdc3.14167
Caroline Garcia Forlim, Valerie Brandt, Ewgeni Jakubovski, Christos Ganos, Simone Kühn, Kirsten Müller-Vahl

Background: Chronic tic disorders (CTD) are multifaceted disorders characterized by multiple motor and/or vocal tics. They are often associated with complex tics including echophenomena, paliphenomena, and coprophenomena as well as psychiatric comorbidities such as attention deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD).

Objectives: Our goal was to uncover the inter-relational structure of CTD and comorbid symptoms in children and adults and to understand changes in symptom structure across development.

Methods: We used network and graph analyses to uncover the structure of association of symptoms in childhood/adolescence (n = 529) and adulthood (n = 503) and how this structure might change from childhood to adulthood, pinpointing core symptoms as a main target for interventions.

Results: The analysis yielded core symptom networks in young and adult patients with CTD including complex tics and tic-related phenomena as well as touching people and objects. Core symptoms in childhood also included ADHD symptoms, whereas core symptoms in adults included symptoms of OCD instead. Interestingly, self-injurious behavior did not play a core role in the young CTD network, but became one of the central symptoms in adults with CDT. In addition, we found strong connections between complex motor and vocal tics as well as echolalia and echopraxia.

Conclusions: Next to other complex tics, echophenomena, paliphenomena, and coprophenomena can be regarded core symptoms of CTD. ADHD symptoms are closely related to CTD in childhood, whereas symptoms of OCD and self-injurious behavior are closely associated with CTD in adults. Our results suggest that a differentiation between motor and vocal tics is somewhat arbitrary.

背景:慢性抽搐症(CTD)是以多种运动和/或发声抽搐为特征的多发性疾病。它们通常伴有复杂的抽搐症状,包括回声现象、上感现象和共感现象,以及精神并发症,如注意力缺陷/多动障碍(ADHD)和强迫症(OCD):我们的目标是揭示儿童和成人 CTD 与合并症状之间的相互关系结构,并了解症状结构在整个发育过程中的变化:我们使用网络和图表分析法揭示了儿童/青少年期(n = 529)和成年期(n = 503)症状的关联结构,以及这种结构从儿童期到成年期可能发生的变化,并将核心症状确定为干预的主要目标:结果:分析得出了年轻和成年 CTD 患者的核心症状网络,包括复杂的抽搐和抽搐相关现象以及触摸人和物。儿童期的核心症状还包括多动症症状,而成人期的核心症状则包括强迫症症状。有趣的是,自伤行为在幼年 CTD 网络中并不是核心症状,但在成年 CDT 患者中却成为核心症状之一。此外,我们还发现复杂运动抽搐和发声抽搐以及回声和回声秽语之间存在紧密联系:结论:除其他复杂的抽搐症状外,回声现象、上颚现象和共鸣现象也可被视为 CTD 的核心症状。儿童时期的多动症症状与 CTD 密切相关,而强迫症症状和自伤行为则与成人 CTD 密切相关。我们的研究结果表明,区分运动抽动和发声抽动有些武断。
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引用次数: 0
Archimedes Spiral Ratings: Determinants and Population-Based Limits of Normal. 阿基米德螺旋评级:决定因素和基于人口的正常极限。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-05 DOI: 10.1002/mdc3.14201
Franziska Hopfner, Anja Tietz, Yuri D'Elia, Cristian Pattaro, Jos S Becktepe, Martin Gögele, Laura Barin, Peter P Pramstaller, Gregor Kuhlenbäumer, Roberto Melotti

Background: Tremor is commonly found among healthy humans or prevalently a symptom of neurological dysfunctions. However, the distinction between physiological and pathological tremor is dependent on the examiner's competence. Archimedes Spiral Rating (ASR) is a valid and reproducible semi-quantitative method to assess the severity of action tremor.

Objectives: (1) To assess the range and percentiles of ASR in a large sample seemingly free of tremor-related conditions or symptoms from the population-based CHRIS-study. (2) To analyze the influence of sex, age, and the drawing hand on ASR. (3) To define ASR limits of normal. (4) To supply exemplary Archimedes spiral drawings by each rating to favor consistent and proficient clinical evaluation.

Methods: Accurately investigated participants were randomly sampled over 14 sex-age strata. 2686 paired spirals drawn with both hands by 1343 participants were expertly assessed on a tremor rating scale from 0 to 9.

Results: ASR had a quadratic increase with age in both sexes, while it was relatively lower in the dominant compared to the non-dominant hand and in women compared to men. ASRs above sex-age specific 97.5th percentiles of 4 and 5, below and above 60 years of age, respectively, were conceivably of non-physiological nature.

Conclusions: In a large population-based sample we show a steeper increase of action tremor by age as age progresses. Relatively higher ratings among the elderly, males and the non-dominant hands, appear compatible with ASR limits of "normal" across sex-age groups. The current operational evidence may support practitioners differentiating physiological and pathological hand tremor.

背景:震颤常见于健康人,也是神经功能障碍的主要症状。然而,生理性震颤和病理性震颤的区分取决于检查者的能力。阿基米德螺旋评定法(ASR)是一种有效且可重复的半定量方法,用于评估动作性震颤的严重程度。目标:(1)在基于人群的 CHRIS 研究中,对看似没有震颤相关疾病或症状的大样本进行 ASR 范围和百分位数评估。(2)分析性别、年龄和绘图手对 ASR 的影响。(3) 界定 ASR 的正常范围。(4) 按等级提供阿基米德螺旋图样,以利于临床评估的一致性和准确性:方法:在 14 个性别-年龄分层中随机抽取经过准确调查的参与者。对 1343 名参与者用双手绘制的 2686 幅成对螺旋图进行了专家评估,震颤等级从 0 到 9:男女震颤率均随年龄呈二次方增长,但惯用手的震颤率相对低于非惯用手,女性震颤率也相对低于男性。60岁以下和60岁以上的ASR分别高于性别年龄特定的97.5百分位数4和5,这可能是非生理性的:结论:在一个基于人口的大型样本中,我们发现随着年龄的增长,动作性震颤在不同年龄段的增加速度更快。老年人、男性和非惯用手的动作震颤评分相对较高,这与不同性别-年龄组的 "正常 "动作震颤限值相符。目前的操作证据可为从业人员区分生理性和病理性手震颤提供支持。
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引用次数: 0
Effect of Early Levodopa Treatment on Mortality in People with Parkinson's Disease. 早期左旋多巴治疗对帕金森病患者死亡率的影响。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1002/mdc3.14174
Amir H Talebi, Sirwan K L Darweesh, Bas R Bloem, Ioan G Bucur, Tom Heskes

Background: The ideal timing for initiating levodopa in newly diagnosed people with Parkinson's disease (PD) is uncertain due to limited data on the long-term effects of levodopa.

Objective: The aim was to investigate whether early levodopa initiation postpones mortality (primary outcome), the requirement of device-aided therapies, and the incidence of PD-related complications, such as fall-induced injuries.

Methods: Using nationwide claims data from Dutch hospitals (2012-2020), we grouped newly diagnosed PD individuals as "early initiators" (initiating levodopa within 2 years of diagnosis) or "nonearly initiators." We used the national death registry to assess mortality and health-care claims to assess PD-related complications and device-aided therapies. We used marginal structural models to compare mortality and device-aided therapy rates between groups, and a Poisson regression model to compare PD-related complication rates.

Results: Among 29,943 newly diagnosed PD individuals (mean age at diagnosis: 71.6, 38.5% female), there were 24,847 early and 5096 nonearly levodopa initiators. Over a median 4.25 years, 8109 (27.1%) died. The causal risk ratio for mortality was 1.04 (95% confidence interval [CI] 0.92-1.19) for early versus nonearly initiators. The risk ratio of receiving any device-aided therapy was 3.19 (95% CI 2.56-5.80). No association was observed with incidence of PD-related complications (incidence rate ratio: 1.00, 95% CI 0.96-1.05).

Conclusions: Early levodopa initiation in PD does neither postpone nor accelerate mortality or PD-related complications, nor does it precipitate earlier occurrence of PD-related complications or mortality. However, we cannot exclude that the results were influenced by residual confounding due to unmeasured risk factors of mortality.

背景:由于有关左旋多巴长期效果的数据有限,新诊断的帕金森病(PD)患者开始使用左旋多巴的理想时机尚不确定:目的:研究早期开始使用左旋多巴是否会推迟死亡率(主要结果)、对器械辅助疗法的需求以及帕金森病相关并发症(如跌倒引起的伤害)的发生率:利用荷兰全国医院的理赔数据(2012-2020 年),我们将新确诊的帕金森病患者分为 "早期启动者"(确诊后 2 年内开始使用左旋多巴)和 "非早期启动者"。我们使用全国死亡登记册来评估死亡率,并使用医疗索赔来评估与帕金森病相关的并发症和器械辅助疗法。我们使用边际结构模型来比较各组之间的死亡率和器械辅助治疗率,并使用泊松回归模型来比较与帕金森病相关的并发症发生率:在29943名新确诊的帕金森病患者(确诊时平均年龄:71.6岁,38.5%为女性)中,有24847名早期左旋多巴患者和5096名非早期左旋多巴患者。在中位数 4.25 年的时间里,有 8109 人(27.1%)死亡。早期与非早期患者的死亡因果风险比为 1.04(95% 置信区间 [CI]:0.92-1.19)。接受任何设备辅助治疗的风险比为 3.19(95% CI 2.56-5.80)。与帕金森病相关并发症的发生率无关联(发生率比:1.00,95% CI 0.96-1.05):结论:早期开始使用左旋多巴治疗帕金森病既不会推迟也不会加速死亡或帕金森病相关并发症的发生,也不会提前出现帕金森病相关并发症或死亡。但是,我们不能排除由于未测量的死亡风险因素造成的残余混杂因素对结果的影响。
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引用次数: 0
Rapid Eye Movements during REM Sleep Differentiate PSP from Parkinson's Disease. 快速眼动睡眠期间的快速眼动可区分帕金森病和帕金森综合症
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-07 DOI: 10.1002/mdc3.14187
Claudio Togni, Sandra Carpinelli, Philipp O Valko, Christopher Bockisch, Daniel Waldvogel, Esther Werth, Konrad P Weber, Yulia Valko

Background: Little is known about the characteristics and occurrence frequencies of rapid eye movements (REMs) during REM sleep in movement disorders.

Objectives: The aim of this study was to detect and characterize REMs during polysomnographically defined REM sleep as recorded by electro-oculography (EOG) in 12 patients with progressive supranuclear palsy (PSP), 13 patients with Parkinson's disease (PD) and 12 healthy controls.

Methods: Using a modified EOG montage, we developed an algorithm that automatically detects and characterizes REMs during REM sleep based on their presumptive saccadic kinematics.

Results: Compared to PD and healthy controls, REM densities and REM peak velocities were significantly reduced in PSP. These effects were most pronounced in vertical REMs.

Conclusion: Ocular motor dysfunction, one of the cardinal features of PSP, seems to be equally at play during REM sleep and wakefulness. For future studies, we provide a novel tool for the unbiased analysis of REMs during REM sleep in movement disorders.

背景:人们对运动障碍患者快速眼动睡眠期间快速眼动(REM)的特征和发生频率知之甚少:本研究的目的是检测12名进行性核上性麻痹(PSP)患者、13名帕金森病(PD)患者和12名健康对照者在多导睡眠图定义的快速眼动睡眠中的快速眼动,并描述其特征:方法:我们使用改良的 EOG 蒙太奇,开发了一种算法,可根据推测的眼球运动学自动检测和描述快速动眼期睡眠中的快速动眼期:与帕金森病和健康对照组相比,帕金森病患者的快速动眼期密度和快速动眼期峰值速度明显降低。这些影响在垂直快速动眼期最为明显:结论:眼部运动功能障碍是帕金森病的主要特征之一,在快速眼动睡眠和清醒时似乎同样起作用。对于未来的研究,我们提供了一种新的工具,用于对运动障碍患者快速动眼期睡眠进行无偏见的分析。
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引用次数: 0
Clinical Practices and Opinions toward Gastrostomy Use in Patients with Atypical Parkinsonian Syndromes: A National Survey in the UK. 非典型帕金森综合征患者使用胃造口术的临床实践和观点:英国全国调查。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-27 DOI: 10.1002/mdc3.14196
Christopher Kobylecki, Yee Yen Goh, Rahema Mohammad, Alanna Beat, Emilia Michou, Samantha Pavey, Huw Morris, Henry Houlden, Viorica Chelban

Background: Severe dysphagia poses a significant challenge for clinicians regarding feeding tube choices, practices, and timing due to a lack of evidence-based guidance.

Objectives: To assess national clinical practices and opinions on gastrostomy use in patients with atypical parkinsonian syndromes (APS) across the UK.

Methods: Online survey was administered to clinicians and allied health professionals regarding availability of services, current use, perceived advantages, and problems associated with gastrostomy insertion.

Results: We received responses from 47 respondents across 12 UK centers, including 44 clinicians specialized in APS. Consensus was observed regarding primary indications for gastrostomy insertion and circumstances justifying avoidance of the procedure. Limitations in recommending gastrostomy due to insufficient evidence on safety and outcomes, survival and quality of life were identified. Widespread agreement on delays in gastrostomy discussions was highlighted as a challenge in optimizing patient care, together with variability in current practices and concerns over the lack of a standardized gastrostomy pathway, emphasizing the need for further research to address existing evidence gaps.

Conclusion: This multi-center survey highlights agreement among clinicians on key aspects of indication, challenges, and limitations such as delayed decision-making and the absence of standardized pathways regarding the timing, method, and overall approach to gastrostomy insertion in APS. This study identified next steps to facilitate a more structured approach to future research toward a consensus on best practices for gastrostomy in APS. Addressing these challenges is crucial for enhancing patient outcomes and overall care quality in APS.

背景:由于缺乏循证指导,严重吞咽困难给临床医生在喂食管的选择、实践和时机方面带来了巨大挑战:评估英国全国临床实践以及对非典型帕金森综合征(APS)患者使用胃造瘘管的看法:方法:对临床医生和专职医疗人员进行在线调查,内容包括服务的可用性、目前的使用情况、感知到的优势以及与胃造瘘术相关的问题:我们收到了来自英国 12 个中心 47 位受访者的回复,其中包括 44 位 APS 专业临床医生。我们就胃造瘘术的主要适应症和避免该手术的情况达成了共识。由于在安全性和结果、生存率和生活质量方面的证据不足,建议进行胃造瘘术存在局限性。人们普遍认为胃造瘘术讨论中的延迟是优化患者护理的一个挑战,此外,目前的做法存在差异,人们还对缺乏标准化的胃造瘘术路径表示担忧,因此强调有必要开展进一步研究,以弥补现有的证据差距:这项多中心调查强调了临床医生在适应症、挑战和局限性等关键方面的共识,如延迟决策以及在 APS 胃造口插入的时机、方法和整体途径方面缺乏标准化路径。本研究确定了下一步工作,以促进未来研究采用更有条理的方法,就 APS 胃造瘘术的最佳实践达成共识。应对这些挑战对于提高 APS 患者的治疗效果和整体护理质量至关重要。
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引用次数: 0
Patient Experience and Feasibility of a Remote Monitoring System in Parkinson's Disease. 帕金森病远程监控系统的患者体验和可行性。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-26 DOI: 10.1002/mdc3.14169
Bart R Maas, Daniël H B Speelberg, Gert-Jan de Vries, Giulio Valenti, Andreas Ejupi, Bastiaan R Bloem, Sirwan K L Darweesh, Nienke M de Vries

Background: Remote monitoring systems have the potential to measure symptoms and treatment effects in people with Parkinson's disease (PwP) in the home environment. However, information about user experience and long-term compliance of such systems in a large group of PwP with relatively severe PD symptoms is lacking.

Objective: The aim was to gain insight into user experience and long-term compliance of a smartwatch (to be worn 24/7) and an online dashboard to report falls and receive feedback of data.

Methods: We analyzed the data of the "Bringing Parkinson Care Back Home" study, a 1-year observational cohort study in 200 PwP with a fall history. User experience, compliance, and reasons for noncompliance were described. Multiple Cox regression models were used to identify determinants of 1-year compliance.

Results: We included 200 PwP (mean age: 69 years, 37% women), of whom 116 (58%) completed the 1-year study. The main reasons for dropping out of the study were technical problems (61 of 118 reasons). Median wear time of the smartwatch was 17.5 h/day. The online dashboard was used by 77% of participants to report falls. Smartphone possession, shorter disease duration, more severe motor symptoms, and less-severe freezing and balance problems, but not age and gender, were associated with a higher likelihood of 1-year compliance.

Conclusions: The 1-year compliance with this specific smartwatch was moderate, and the user experience was generally good, except battery life and data transfer. Future studies can build on these findings by incorporating a smartwatch that is less prone to technical issues.

背景:远程监控系统有可能在家庭环境中测量帕金森病患者(PwP)的症状和治疗效果。然而,在一大批帕金森病症状相对严重的帕金森病患者中,有关此类系统的用户体验和长期依从性的信息却十分匮乏:目的:深入了解智能手表(全天候佩戴)和在线仪表板的用户体验和长期依从性,以报告跌倒情况并获得数据反馈:我们分析了 "将帕金森护理带回家 "研究的数据,这是一项为期 1 年的观察性队列研究,研究对象是 200 名有跌倒史的帕金森病患者。对用户体验、依从性和不依从的原因进行了描述。采用多元 Cox 回归模型确定 1 年依从性的决定因素:我们纳入了 200 名患者(平均年龄:69 岁,37% 为女性),其中 116 人(58%)完成了为期 1 年的研究。退出研究的主要原因是技术问题(118 个原因中的 61 个)。智能手表的中位佩戴时间为 17.5 小时/天。77%的参与者使用在线仪表板报告跌倒情况。拥有智能手机、病程较短、运动症状较重、肢体僵硬和平衡问题较轻(而非年龄和性别)与较高的1年依从性相关:这款特定智能手表的1年依从性适中,除电池寿命和数据传输外,用户体验总体良好。未来的研究可以在这些研究结果的基础上,增加一款不易出现技术问题的智能手表。
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引用次数: 0
A Novel ANO3 Gene Mutation Associated with a Dystonia-Ataxia Syndrome. 与肌张力障碍-共济失调综合征有关的新型 ANO3 基因突变
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1002/mdc3.14212
Feng Fu, Yixin Kang, Jiaxiang Li, Nan Jin, Xiaosheng Zheng, Zhidong Cen, Wei Luo
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引用次数: 0
Does Delaying Levodopa Prevent Motor Complications in Parkinson's Disease? A Meta-Analysis. 延迟服用左旋多巴可预防帕金森病的运动并发症吗?一项 Meta 分析。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-27 DOI: 10.1002/mdc3.14198
Luis Guilherme Ramanzini, Julia M Frare, Luís F M Camargo, Juliana O F Silveira, Joseph Jankovic

Background: There has been a long debate whether delaying treatment with levodopa prevents motor complications in Parkinson's disease (PD).

Objectives: We performed a meta-analysis on randomized clinical trials (RCTs) that compared early- versus delayed-start treatment with levodopa in PD.

Methods: A systematic review was conducted in PubMed, EMBASE, and Web of Science databases from inception to July 1, 2023. Only RCTs that compared early and delayed levodopa treatment in PD were included. Non-randomized comparisons from follow-up studies were included as well. Our primary outcomes were occurrence of overall motor complications, motor fluctuations, and dyskinesias.

Results: Seven studies with a total of 1149 patients (636 in the early-start group and 513 in the delayed-start) were included in our analysis. There was no difference between groups regarding motor complications (OR 1.39; 95% CI: 0.68-1.72; P = 0.37) or dyskinesias (OR 1.52; 95% CI: 0.90-2.57; P = 0.11). Motor fluctuations occurred less frequently in the early-start group (OR 0.70; 95% CI: 0.52-0.95; P = 0.02). Nonetheless, on subgroup analysis of dopamine agonists, rate of dyskinesias was smaller in the delayed-start group (OR 1.82; 95% CI: 1.08-3.07; P = 0.03).

Conclusions: Delaying treatment with levodopa does not seem to prevent levodopa-related motor complications in PD. Adjunct treatment with dopamine agonists may reduce the need for higher doses of levodopa and thus reduce the risk for dyskinesias but this practice is often associated with a higher frequency of adverse effects related to dopamine agonists.

背景:延迟左旋多巴的治疗是否能预防帕金森病(PD)的运动并发症?延迟左旋多巴的治疗是否能预防帕金森病(PD)的运动并发症一直存在争议:我们对随机临床试验(RCT)进行了一项荟萃分析,比较了左旋多巴在帕金森病早期和延迟开始治疗之间的差异:方法:我们在 PubMed、EMBASE 和 Web of Science 数据库中进行了一项系统性综述,时间跨度从开始到 2023 年 7 月 1 日。仅纳入了比较左旋多巴早期治疗和延迟治疗的临床试验。随访研究中的非随机比较也包括在内。我们的主要结果是总体运动并发症、运动波动和运动障碍的发生率:我们的分析共纳入了七项研究,共计1149名患者(早起始组636人,延迟起始组513人)。两组患者在运动并发症(OR 1.39;95% CI:0.68-1.72;P = 0.37)或运动障碍(OR 1.52;95% CI:0.90-2.57;P = 0.11)方面没有差异。运动波动在早起组发生的频率较低(OR 0.70;95% CI:0.52-0.95;P = 0.02)。然而,在多巴胺受体激动剂亚组分析中,延迟开始治疗组的运动障碍发生率较低(OR 1.82;95% CI:1.08-3.07;P = 0.03):延迟左旋多巴治疗似乎并不能预防左旋多巴相关的运动并发症。多巴胺受体激动剂的辅助治疗可减少对更大剂量左旋多巴的需求,从而降低运动障碍的风险,但这种做法通常会导致与多巴胺受体激动剂相关的不良反应发生率升高。
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引用次数: 0
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant. PEX11B 致病变异体的扩展表型:新型 C.2T > G 变异导致共济失调、震颤和肌张力障碍。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1002/mdc3.14178
Franclo Henning, Kireshnee Naidu, Christopher J Record, Natalia Dominik, Jana Vandrovcova, Frans Lubbe, Marli Dercksen, Lindsay A Wilson, Francois Van Der Westhuizen, Mary M Reilly, Henry Houlden, Michael G Hanna, Jonathan Carr
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引用次数: 0
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Movement Disorders Clinical Practice
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