Movement Disorders最新文献

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Altered Intra‐ and Inter‐Network Resting‐State Functional Connectivity is Associated with Neuropsychological Functioning and Clinical Symptoms in Patients with Isolated Rapid Eye Movement Sleep Behavior Disorder

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-29 DOI: 10.1002/mds.30126

Ignacio Roura, Jèssica Pardo, Cristina Martín‐Barceló, Javier Oltra, Anna Campabadal, Roser Sala‐Llonch, Núria Bargalló, Mònica Serradell, Claustre Pont‐Sunyer, Carles Gaig, Gerard Mayà, Angelica Montini, Carme Junqué, Alex Iranzo, Bàrbara Segura

BackgroundIsolated rapid‐eye movement (REM) sleep behavior disorder (iRBD) is characterized by abnormal behaviors in REM sleep and is considered as a prodromal symptom of alpha‐synucleinopathies. Resting‐state functional magnetic resonance imaging (rsfMRI) studies have unveiled altered functional connectivity (rsFC) in patients with iRBD. However, the associations between intra‐ and inter‐network rsFC with clinical symptoms and neuropsychological functioning in iRBD remain unclear.ObjectiveTo characterize intra‐ and inter‐network rsFC in iRBD patients using a data‐driven approach and to assess its associations with clinical features and cognitive functioning.MethodsForty‐two patients with iRBD and 45 healthy controls (HC) underwent rsfMRI and comprehensive neuropsychological testing. Resting‐state networks were characterized using independent component analyses. Group differences in intra‐ and inter‐network rsFC and their associations with clinical and neuropsychological data were studied. A threshold of corrected P < 0.05 was used in all the analyses.ResultsiRBD patients displayed lower intra‐network rsFC within basal ganglia, visual, sensorimotor, and cerebellar networks, relative to HC. Mean rsFC strength within the basal ganglia network positively correlated with processing speed and negatively with the non‐motor symptoms in iRBD patients. Reduced inter‐network rsFC between sensorimotor and visual medial networks was observed in iRBD patients, which was associated with global cognitive status.ConclusionsiRBD is characterized by both reductions in intra‐network rsFC in cortical and subcortical networks and inter‐network dysconnectivity between sensorimotor and visual networks. Abnormalities in intra‐ and inter‐network rsFC are associated with cognitive performance and non‐motor symptoms, suggesting the utility of both rsFC measures as imaging markers in prodromal alpha‐synucleinopathies. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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引用次数: 0

Brain Age as a New Measure of Disease Stratification in Huntington's Disease

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-29 DOI: 10.1002/mds.30109

Pubu M. Abeyasinghe, James H. Cole, Adeel Razi, Govinda R. Poudel, Jane S. Paulsen, Sarah J. Tabrizi, Jeffrey D. Long, Nellie Georgiou‐Karistianis

BackgroundDespite advancements in understanding Huntington's disease (HD) over the past two decades, absence of disease‐modifying treatments remains a challenge. Accurately characterizing progression states is crucial for developing effective therapeutic interventions. Various factors contribute to this challenge, including the need for precise methods that can account for the complex nature of HD progression.ObjectiveThis study aims to address this gap by leveraging the concept of the brain's biological age as a foundation for a data‐driven clustering method to delineate various states of progression. Brain‐predicted age, influenced by somatic expansion and its impact on brain volumes, offers a promising avenue for stratification by stratifying subgroups and determining the optimal timing for interventions.MethodsTo achieve this, data from 953 participants across diverse cohorts, including PREDICT‐HD, TRACK‐HD, and IMAGE‐HD, were meticulously analyzed. Brain‐predicted age was computed using sophisticated algorithms, and participants were categorized into four groups based on CAG and age product score. Unsupervised k‐means clustering with brain‐predicted age difference (brain‐PAD) was then employed to identify distinct progression states.ResultsThe analysis revealed significant disparities in brain‐predicted age between HD participants and controls, with these differences becoming more pronounced as the disease progressed. Brain‐PAD demonstrated a correlation with disease severity, effectively identifying five distinct progression states characterized by significant longitudinal disparities.ConclusionsThese findings highlight the potential of brain‐PAD in capturing HD progression states, thereby enhancing prognostic methodologies and providing valuable insights for future clinical trial designs and interventions. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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引用次数: 0

DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-27 DOI: 10.1002/mds.30131

Umar Zubair, Habibah A.P. Agianda, Kathryn Yang, Amy Tam, Joshua Rong, Carolina Gorodetsky, Shekeeb S. Mohammad, Juan Darío Ortigoza‐Escobar, Darius Ebrahimi‐Fakhari

引用次数: 0

Prasinezumab: A Bayesian Perspective on Its Efficacy.

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-27 DOI: 10.1002/mds.30129

Mirella Russo, Tommaso Costa, Dario Calisi, Stefano L Sensi

引用次数: 0

Two London Memorials to “James Parkinson [1755–1824], Esq. Surgeon, Late of Hoxton‐Square”

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-24 DOI: 10.1002/mds.30115

Nadeem Toodayan, Andrew J. Lees

Of all London memorials commemorating historical medical personalities, none perhaps have been so frequented by neurologists as those honoring James Parkinson (1755–1824) of Hoxton square. Situated in the historical London borough of Hackney, there are two well‐known memorials to James Parkinson that can still be easily visited: The first, a large, inscribed marble memorial tablet at St Leonard's Church that Parkinson was closely affiliated with throughout life; the second, a historical blue plaque marking the site of Parkinson's birthplace and former home practice at 1 Hoxton Square. Although many contemporary neurologists would freely recall the historical significance of these locations, very few now living can detail the circumstances leading up to these memorials being erected. A new look at rediscovered primary resources provides considerable insight into the history of these monuments dedicated to James Parkinson. © 2025 International Parkinson and Movement Disorder Society.

引用次数: 0

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-24 DOI: 10.1002/mds.30101

Emilie T Théberge, Kate Durbano, Diane Demailly, Sophie Huby, Aleksandra Mitina, Yue Yin, Arezoo Mohajeri, Clara van Karnebeek, Gabriella A Horvath, Ryan K C Yuen, Karen Usdin, Anna Lehman, Laura Cif, Phillip A Richmond

Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.

Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.

Methods: A family of 2 affected brothers and unaffected parents had extensive phenotyping since birth. Whole-genome and long-read sequencing methods characterized genetic variants and methylation status.

Results: Two male siblings with a CGG repeat expansion in the 5'-untranslated region (UTR) of disco-interacting protein 2 homolog B (DIP2B) presented with a novel DIP2B phenotype, including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (chorea, dystonia, and ataxia).

Conclusions: This is the first report of a severe progressive movement disorder phenotype associated with a CGG repeat expansion in the DIP2B 5'-UTR. © 2025 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

{"title":"Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.","authors":"Emilie T Théberge, Kate Durbano, Diane Demailly, Sophie Huby, Aleksandra Mitina, Yue Yin, Arezoo Mohajeri, Clara van Karnebeek, Gabriella A Horvath, Ryan K C Yuen, Karen Usdin, Anna Lehman, Laura Cif, Phillip A Richmond","doi":"10.1002/mds.30101","DOIUrl":"https://doi.org/10.1002/mds.30101","url":null,"abstract":"Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.Methods: A family of 2 affected brothers and unaffected parents had extensive phenotyping since birth. Whole-genome and long-read sequencing methods characterized genetic variants and methylation status.Results: Two male siblings with a CGG repeat expansion in the 5'-untranslated region (UTR) of disco-interacting protein 2 homolog B (DIP2B) presented with a novel DIP2B phenotype, including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (chorea, dystonia, and ataxia).Conclusions: This is the first report of a severe progressive movement disorder phenotype associated with a CGG repeat expansion in the DIP2B 5'-UTR. © 2025 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143031819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30123

Zheyi Wang, Yize Sun, Zetai Bai, Mei Li, Deyuan Kong, Guanzhao Wu

Background: Mitochondrial dysfunction is increasingly recognized as a key factor in neurodegenerative diseases (NDDs), underscoring the therapeutic potential of targeting mitochondria-related genes. This study aimed to identify novel biomarkers and drug targets for these diseases through a comprehensive analysis that integrated genome-wide Mendelian randomization (MR) with genes associated with mitochondrial function.

Methods: Using existing publicly available genome-wide association studies (GWAS) summary statistics and comprehensive data on 1136 mitochondria-related genes, we initially identified a subset of genes related to mitochondrial function that exhibited significant associations with NDDs. We then conducted colocalization and summary-data-based Mendelian randomization (SMR) analyses using expression quantitative trait loci (eQTL) to validate the causal role of these candidate genes. Additionally, we assessed the druggability of the encoded proteins to prioritize potential therapeutic targets for further exploration.

Results: Genetically predicted levels of 10 genes were found to be significantly associated with the risk of NDDs. Elevated DMPK and LACTB2 levels were associated with increased Alzheimer's disease risk. Higher expression of NDUFAF2, BCKDK, and MALSU1, along with lower TTC19, raised Parkinson's disease risk. Higher ACLY levels were associated with both amyotrophic lateral sclerosis and multiple sclerosis (MS) risks, while decreased MCL1, TOP3A, and VWA8 levels raised MS risk. These genes primarily impact mitochondrial function and energy metabolism. Notably, several druggable protein targets identified are being explored for potential NDDs treatment.

Conclusions: This data-driven MR study demonstrated the causal role of mitochondrial dysfunction in NDDs. Additionally, this study identified candidate genes that could serve as potential pharmacological targets for the prevention and treatment of NDDs. © 2025 International Parkinson and Movement Disorder Society.

背景：线粒体功能障碍越来越被认为是神经退行性疾病（ndd）的关键因素，强调了靶向线粒体相关基因的治疗潜力。本研究旨在通过整合全基因组孟德尔随机化（MR）与线粒体功能相关基因的综合分析，确定这些疾病的新生物标志物和药物靶点。方法：利用现有的公开全基因组关联研究（GWAS）对1136个线粒体相关基因的汇总统计和综合数据，我们初步确定了一个与线粒体功能相关的基因子集，这些基因与ndd有显著关联。然后，我们使用表达数量性状位点（eQTL）进行共定位和基于汇总数据的孟德尔随机化（SMR）分析，以验证这些候选基因的因果作用。此外，我们评估了编码蛋白的可药物性，以优先考虑潜在的治疗靶点，以进一步探索。结果：发现10个基因的遗传预测水平与ndd的风险显著相关。DMPK和LACTB2水平升高与阿尔茨海默病风险增加有关。NDUFAF2、BCKDK和MALSU1的高表达以及TTC19的低表达增加了帕金森病的风险。较高的ACLY水平与肌萎缩性侧索硬化症和多发性硬化症（MS）风险相关，而降低的MCL1、TOP3A和VWA8水平会增加MS风险。这些基因主要影响线粒体功能和能量代谢。值得注意的是，一些已确定的可药物蛋白靶点正在被探索用于潜在的ndd治疗。结论：这项数据驱动的MR研究证明了线粒体功能障碍在ndd中的因果作用。此外，本研究还确定了可能作为预防和治疗ndd的潜在药理靶点的候选基因。©2025国际帕金森和运动障碍学会。

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引用次数: 0

January Infographic 图1月

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.29841

Insulin resistance is a modifying factor for Parkinson's disease

引用次数: 0

Human Endogenous Retrovirus K in Astrocytes Is Altered in Parkinson's Disease. 人类星形胶质细胞内源性逆转录病毒K在帕金森病中发生改变

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30128

YuHong Fu, Gabrielle L Adler, Priscilla Youssef, Katherine Phan, Glenda M Halliday, Nicolas Dzamko, Woojin Scott Kim

Background: Parkinson's disease (PD) is the most common neurodegenerative movement disease. Human endogenous retroviruses (HERVs) are proviral remnants of ancient retroviral infection of germ cells that now constitute about 8% of the human genome. Under certain disease conditions, HERV genes are activated and partake in the disease process. However, virtually nothing is known about the pathological relationship, if any, between HERV and PD.

Objective: The objectives of this study were to unravel the pathological relationship between human endogenous retrovirus K (HERV-K) and PD, determine the localization of HERV-K in the brain, determine whether HERV-K levels are altered in PD brain and blood, and examine whether HERV-K could serve as a biomarker for PD.

Methods: In situ HERV-K and glial fibrillary acidic protein (GFAP) expression in the superior frontal and fusiform cortices of PD and control brain were analyzed using immunofluorescence and confocal microscopy. HERV-K load and copy number in PD and control blood were measured by digital droplet polymerase chain reaction and GFAP by single-molecule array. HERV-K load was analyzed in relation to the Hoehn and Yahr Scale and Movement Disorder Society Unified Parkinson's Disease Rating Scale Part III.

Results: HERV-K is predominantly expressed in astrocytes and colocalized with astrocytic GFAP, with decreased expression of both HERV-K and GFAP in PD brain compared with controls. Consistent with this, HERV-K levels were decreased in PD blood compared with controls and were correlated to blood GFAP levels. HERV-K levels were inversely correlated to PD severity and duration.

Conclusions: These findings suggest that HERV-K is related to astrocyte function and to PD progression, and that HERV-K could be neuroprotective. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景：帕金森病（PD）是最常见的神经退行性运动疾病。人类内源性逆转录病毒（herv）是古老的生殖细胞逆转录病毒感染的前病毒残余物，现在约占人类基因组的8%。在某些疾病条件下，HERV基因被激活并参与疾病过程。然而，几乎没有人知道HERV和PD之间的病理关系，如果有的话。目的：本研究旨在揭示人内源性逆转录病毒K （HERV-K）与PD的病理关系，确定HERV-K在脑中的定位，确定HERV-K在PD脑和血液中的水平是否发生改变，并探讨HERV-K是否可以作为PD的生物标志物。方法：应用免疫荧光和共聚焦显微镜分析PD和对照脑额叶上皮层和梭状回皮层中HERV-K和胶质纤维酸性蛋白（GFAP）的原位表达。采用数字液滴聚合酶链反应和单分子阵列GFAP检测PD和对照血中HERV-K的载量和拷贝数。HERV-K负荷与Hoehn and Yahr量表和运动障碍学会统一帕金森病评定量表第三部分的关系进行分析。结果：HERV-K主要在星形胶质细胞中表达，与星形胶质细胞GFAP共定位，与对照组相比，PD脑中HERV-K和GFAP的表达均降低。与此一致的是，与对照组相比，PD血液中的HERV-K水平降低，并与血液GFAP水平相关。HERV-K水平与PD的严重程度和持续时间呈负相关。结论：这些发现提示HERV-K与星形细胞功能和PD进展有关，并且HERV-K可能具有神经保护作用。©2025作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。

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引用次数: 0

Editorial on: Confirmation of RAB32 Ser71Arg involvement in Parkinson's disease 评论：确认RAB32 Ser71Arg参与帕金森病。

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30080

Emil K. Gustavsson PhD

引用次数: 0

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