Movement Disorders最新文献

筛选
英文 中文
Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease LRRK2 p.V1447L在帕金森病中的功能和结构特征
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-07-30 DOI: 10.1002/mds.30284
Neringa Pratuseviciute, Pawel Lis, Sacha Weber, Nicolas Gruchy, Lionel Arnaud, Dario R. Alessi, Esther Sammler
{"title":"Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease","authors":"Neringa Pratuseviciute, Pawel Lis, Sacha Weber, Nicolas Gruchy, Lionel Arnaud, Dario R. Alessi, Esther Sammler","doi":"10.1002/mds.30284","DOIUrl":"https://doi.org/10.1002/mds.30284","url":null,"abstract":"BackgroundGain‐of‐kinase‐function variants in LRRK2 are a leading cause of monogenic Parkinson's disease (PD).ObjectivesWe tested the functional impact of a novel LRRK2 variant p.V1447L identified in a young‐onset PD patient in vivo in peripheral blood, as well as in a robust cellular assay, alongside other variants in close proximity to V1447.MethodsWe measured LRRK2‐dependent Rab10 phosphorylation in neutrophils and monocytes of a LRRK2 p.V1447L carrier with PD. We performed structural mapping and evaluated the potential impact of other LRRK2 variants at and around LRRK2 V1447.ResultsLRRK2 p.V1447L strongly increases LRRK2 kinase activity. We identified additional variants in the LRRK2 ROC:COR<jats:sub>B</jats:sub> interface with critical impact on kinase activity and demonstrated that different substitutions at the same residue can have opposing effects.ConclusionsWe recommend reclassifying LRRK2 p.V1447L from variant of uncertain significance to likely pathogenic. Our study expands the range of putative loss‐of‐kinase function variants to LRRK2 missense variants. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"27 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144747269","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
Glymphatic Dysfunction in Non‐Manifesting Carriers of LRRK2 and GBA Pathogenic Variants 非显性LRRK2和GBA致病变异携带者的淋巴功能障碍
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-07-28 DOI: 10.1002/mds.30306
Dongling Zhang, Ling Luo, Lingyu Li, Junye Yao, Qianyi Zheng, Hongjian He, Tao Feng, Xi‐jian Dai, Tao Wu
{"title":"Glymphatic Dysfunction in Non‐Manifesting Carriers of LRRK2 and GBA Pathogenic Variants","authors":"Dongling Zhang, Ling Luo, Lingyu Li, Junye Yao, Qianyi Zheng, Hongjian He, Tao Feng, Xi‐jian Dai, Tao Wu","doi":"10.1002/mds.30306","DOIUrl":"https://doi.org/10.1002/mds.30306","url":null,"abstract":"BackgroundNon‐manifesting carriers of LRRK2 and GBA pathogenic variants represent a unique cohort for investigating neuroprotective interventions at the prodromal stage of Parkinson's disease (PD). A critical challenge is identifying effective markers to predict non‐manifesting carriers at high risk of developing PD.ObjectivesOur goal was to investigate whether glymphatic function is impaired in non‐manifesting carriers and to evaluate the potential of glymphatic dysfunction as a marker for identifying individuals at high risk of PD.MethodsWe used diffusion‐tensor imaging analysis along the perivascular space (ALPS) method to assess glymphatic function in participants from the Parkinson's Progression Markers Initiative (PPMI) dataset. Cross‐sectional and longitudinal changes in the ALPS index were evaluated, and baseline predictors of clinical progression were identified. The association between ALPS index and the risk of phenoconversion was examined using Kaplan–Meier survival analysis and Cox proportional hazards regression.ResultsEighty non‐manifesting carriers of LRRK2 and GBA pathogenic variants were included. ALPS index values were reduced cross‐sectionally and longitudinally, and were correlated with cognitive function and daytime sleepiness scores. Baseline ALPS index values predicted a decline in Hopkins Verbal Learning Test‐immediate recall scores over a 3‐year follow‐up period. During follow‐up, 17 non‐manifesting carriers converted to clinically defined PD. Increasing ALPS index values were associated with a decreased risk of phenoconversion (hazard ratio [95% confidence interval] = 0.128 [0.029–0.565], <jats:italic>P</jats:italic> = 0.0013).ConclusionsGlymphatic function is impaired in non‐manifesting carriers. Glymphatic dysfunction is associated with an increased risk of phenoconversion. The ALPS index has the potential as a marker for identifying individuals at high risk of developing PD. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"22 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144715362","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
HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights. 脑瘫和儿童期遗传性痉挛性截瘫的HPDL双等位基因变异:人类和斑马鱼的观察。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-07-28 DOI: 10.1002/mds.30296
Serena Mero,Sara Satolli,Daniele Galatolo,Flavio Dal Canto,Michela Armando,Guja Astrea,Melissa Barghigiani,Giorgia Bruno,Gianmarco Dalla Zanna,Rosa De Micco,Claudia Dosi,Martina Lombardi,Federico Melani,Mariarosa Anna Beatrice Melone,Domenico Montanaro,Rossella Pasquariello,Ivana Ricca,Mariapaola Schifino,Rosanna Trovato,Alessandro Tessitore,Jacopo Troisi,Antonio Varone,Valentina Naef,Filippo M Santorelli
{"title":"HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.","authors":"Serena Mero,Sara Satolli,Daniele Galatolo,Flavio Dal Canto,Michela Armando,Guja Astrea,Melissa Barghigiani,Giorgia Bruno,Gianmarco Dalla Zanna,Rosa De Micco,Claudia Dosi,Martina Lombardi,Federico Melani,Mariarosa Anna Beatrice Melone,Domenico Montanaro,Rossella Pasquariello,Ivana Ricca,Mariapaola Schifino,Rosanna Trovato,Alessandro Tessitore,Jacopo Troisi,Antonio Varone,Valentina Naef,Filippo M Santorelli","doi":"10.1002/mds.30296","DOIUrl":"https://doi.org/10.1002/mds.30296","url":null,"abstract":"BACKGROUNDThe human 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) has been linked to hereditary spastic paraplegia (HSP) with potential roles in neurogenesis and energy metabolism. However, the prevalence of HPDL variants in childhood-onset motor impairments remains unclear.OBJECTIVEThis study set out to characterize new patients with biallelic HPDL variants, and to explore the role of this protein both in vitro and in vivo.METHODSExome sequencing was performed on 210 patients with HSP, diplegic cerebral palsy (CP), or moderate/severe neurodevelopmental disorders. To understand the role of HPDL, we performed functional studies in patient-derived fibroblasts and crispant (hpdl-F0) zebrafish larvae.RESULTSWe identified 14 patients who exhibited reduced HPDL protein expression in cultured skin fibroblasts. Children with HPDL variants had elevated plasma glial fibrillary acidic protein levels, and serum metabolomics revealed reduced levels of 4-hydroxybenzeneacetic acid, a precursor of 4-hydroxymandelic acid (4HMA) and 4-hydroxybenzoic acid (4HB), with disruptions in metabolic pathways, including the Krebs cycle. The involvement of HPDL in energy metabolism was supported by altered mitochondrial respiration and increased cytosolic reactive oxygen species in human cells. Investigations into hpdl-F0 revealed neurodevelopmental abnormalities and epilepsy-like behavior, likely due to mitochondrial dysfunction, mirroring the phenotypes observed in children. Bypass therapy with 4HMA rescued the disease phenotypes in cells and hpdl-F0 crispant, while 4HB did so only partially in fish.CONCLUSIONSHPDL variants are responsible for CP-like spastic paraparesis in children. Loss of HPDL function disrupts cellular oxidative metabolism, highlighting its role in neurodevelopment and energy homeostasis, both in vitro and in vivo. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"14 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719939","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
Deep Learning to Differentiate Parkinsonian Syndromes Using Multimodal Magnetic Resonance Imaging: A Proof-of-Concept Study. 使用多模态磁共振成像的深度学习来区分帕金森综合征:一项概念验证研究。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-07-24 DOI: 10.1002/mds.30300
Giulia Maria Mattia,Lydia Chougar,Alexandra Foubert-Samier,Wassilios G Meissner,Margherita Fabbri,Anne Pavy-Le Traon,Olivier Rascol,David Grabli,Bertrand Degos,Nadya Pyatigorskaya,Alice Faucher,Marie Vidailhet,Jean-Christophe Corvol,Stéphane Lehéricy,Patrice Péran
{"title":"Deep Learning to Differentiate Parkinsonian Syndromes Using Multimodal Magnetic Resonance Imaging: A Proof-of-Concept Study.","authors":"Giulia Maria Mattia,Lydia Chougar,Alexandra Foubert-Samier,Wassilios G Meissner,Margherita Fabbri,Anne Pavy-Le Traon,Olivier Rascol,David Grabli,Bertrand Degos,Nadya Pyatigorskaya,Alice Faucher,Marie Vidailhet,Jean-Christophe Corvol,Stéphane Lehéricy,Patrice Péran","doi":"10.1002/mds.30300","DOIUrl":"https://doi.org/10.1002/mds.30300","url":null,"abstract":"BACKGROUNDThe differentiation between multiple system atrophy (MSA) and Parkinson's disease (PD) based on clinical diagnostic criteria can be challenging, especially at an early stage. Leveraging deep learning methods and magnetic resonance imaging (MRI) data has shown great potential in aiding automatic diagnosis.OBJECTIVEThe aim was to determine the feasibility of a three-dimensional convolutional neural network (3D CNN)-based approach using multimodal, multicentric MRI data for differentiating MSA and its variants from PD.METHODSMRI data were retrospectively collected from three MSA French reference centers. We computed quantitative maps of gray matter density (GD) from a T1-weighted sequence and mean diffusivity (MD) from diffusion tensor imaging. These maps were used as input to a 3D CNN, either individually (\"monomodal,\" \"GD\" or \"MD\") or in combination (\"bimodal,\" \"GD-MD\"). Classification tasks included the differentiation of PD and MSA patients. Model interpretability was investigated by analyzing misclassified patients and providing a visual interpretation of the most activated regions in CNN predictions.RESULTSThe study population included 92 patients with MSA (50 with MSA-P, parkinsonian variant; 33 with MSA-C, cerebellar variant; 9 with MSA-PC, mixed variant) and 64 with PD. The best accuracies were obtained for the PD/MSA (0.88 ± 0.03 with GD-MD), PD/MSA-C&PC (0.84 ± 0.08 with MD), and PD/MSA-P (0.78 ± 0.09 with GD) tasks. Patients misclassified by the CNN exhibited fewer and milder image alterations, as found using an image-based z score analysis. Activation maps highlighted regions involved in MSA pathophysiology, namely the putamen and cerebellum.CONCLUSIONSOur findings hold promise for developing an efficient, MRI-based, and user-independent diagnostic tool suitable for differentiating parkinsonian syndromes in clinical practice. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"277 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693456","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
Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study RFC1谱系障碍患者睡眠障碍的患病率及临床相关性:一项横断面研究
IF 7.6 1区 医学
Movement Disorders Pub Date : 2025-07-21 DOI: 10.1002/mds.30279
Antonio Funcis MD, Valerio Brunetti MD, PhD, Salvatore Rossi MD, PhD, Giammarco Dalla Zanna MD, Martina de Scisciolo MD, Giulia Maneri MSc, Enrico Di Stasio MD, Antonio Petrucci, Giacomo Della Marca MD, PhD, Gabriella Silvestri MD, PhD
{"title":"Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study","authors":"Antonio Funcis MD,&nbsp;Valerio Brunetti MD, PhD,&nbsp;Salvatore Rossi MD, PhD,&nbsp;Giammarco Dalla Zanna MD,&nbsp;Martina de Scisciolo MD,&nbsp;Giulia Maneri MSc,&nbsp;Enrico Di Stasio MD,&nbsp;Antonio Petrucci,&nbsp;Giacomo Della Marca MD, PhD,&nbsp;Gabriella Silvestri MD, PhD","doi":"10.1002/mds.30279","DOIUrl":"10.1002/mds.30279","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sleep disturbances in RFC1-spectrum disorders remain unexplored. This study aimed to investigate the prevalence and characteristics of sleep disorders in patients with RFC1-spectrum disorders and their impact on quality of life (QoL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients underwent a comprehensive sleep assessment using validated questionnaires, polysomnography, and QoL evaluation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 16 participants, 15 (94%) had obstructive sleep apnea: severe in four, moderate in nine, and mild in two. Restless legs syndrome affected 12 patients (75%), with moderate-to-severe symptoms in 11. Periodic limb movements during sleep exceeded the clinical threshold in 10 patients (63%). Rapid eye movement (REM) sleep behavior disorder was identified in 1 patient. Subjective assessments revealed poor sleep quality in 11 patients (69%) and insomnia in 10 (63%). All patients exhibited reduced QoL. Reduction in slow-wave sleep and REM sleep are associated with increased clinical severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>RFC1-spectrum disorders are associated with a high prevalence of sleep disorders and impaired QoL, highlighting the need for screening. © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 9","pages":"1990-1995"},"PeriodicalIF":7.6,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30279","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144677551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reliability of Neuroimaging and Neurophysiological Tremor Features in Parkinson's Disease. 帕金森病神经影像学和神经生理震颤特征的可靠性。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-07-21 DOI: 10.1002/mds.30299
Luca Angelini,Kevin van den Berg,Michiel Dirkx,Matteo Bologna,Bastiaan R Bloem,Rick C G Helmich
{"title":"Reliability of Neuroimaging and Neurophysiological Tremor Features in Parkinson's Disease.","authors":"Luca Angelini,Kevin van den Berg,Michiel Dirkx,Matteo Bologna,Bastiaan R Bloem,Rick C G Helmich","doi":"10.1002/mds.30299","DOIUrl":"https://doi.org/10.1002/mds.30299","url":null,"abstract":"BACKGROUNDTremor is one of the cardinal motor symptoms of Parkinson's disease (PD). Its severity can be quantified with clinical rating scales and neurophysiology. The pathophysiology of PD tremor involves activity in the cerebello-thalamo-cortical circuit (CTC), which can be quantified with concurrent accelerometry-functional magnetic resonance imaging (fMRI). This opens possibilities for fMRI-informed precision medicine, but it remains unclear if tremor-related fMRI activity is a reliable biomarker at the individual level.OBJECTIVESTo assess the test-retest reliability of three PD tremor outcome measures: clinical rating scales, accelerometry, and combined accelerometry-fMRI.METHODSWe studied 26 tremor-dominant PD patients OFF medication on two separate days (2-month interval). On each day, tremor was characterized with clinical rating scales (Fahn-Tolosa-Marin Tremor Rating Scale), accelerometry, and concurrent accelerometry-fMRI. Reliability was assessed using Spearman correlations and intraclass correlation coefficients.RESULTSClinical and neurophysiological tremor parameters were reliable across sessions. Resting tremor-related fMRI activity was observed within the CTC across both sessions. The amplitude of tremor-related activity in motor cortex and cerebellum had a significant, but moderate, between-session reliability. Furthermore, the activity-by-voxel distribution of tremor-related activity within motor cortex and cerebellum showed a significant between-session correlation in at least two-thirds of patients, and intra-individual variability was significantly lower than inter-individual variability.CONCLUSIONSBoth the amplitude and location of resting tremor-related activity in motor cortex and cerebellum, derived from concurrent accelerometry-fMRI, are replicable between sessions. This suggests that accelerometry-fMRI may be used as an individual biomarker for tremor pathophysiology, to guide intervention studies and assess target engagement of new anti-tremor therapies. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"661 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144669334","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
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches 解开遗传共济失调的全球织锦:流行病学和基因检测方法。
IF 7.6 1区 医学
Movement Disorders Pub Date : 2025-07-18 DOI: 10.1002/mds.30302
Malco Rossi MD, PhD, Christopher D. Stephen MB, ChB, FRCP, SM, Joana Damásio MD, PhD, José Luiz Pedroso MD, PhD, Sheng-Han Kuo MD, Chi-Ying R. Lin MD, MPH, Oluwadamilola Ojo MD, Shaimaa El-Jaafary MD, Woong-Woo Lee MD, PhD, Harutyun Madoev MSc, Orlando G.P. Barsottini MD, PhD, Achal Kumar Srivastava MD, DM, Christine Klein MD, Bart P. van de Warrenburg MD, PhD
{"title":"Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches","authors":"Malco Rossi MD, PhD,&nbsp;Christopher D. Stephen MB, ChB, FRCP, SM,&nbsp;Joana Damásio MD, PhD,&nbsp;José Luiz Pedroso MD, PhD,&nbsp;Sheng-Han Kuo MD,&nbsp;Chi-Ying R. Lin MD, MPH,&nbsp;Oluwadamilola Ojo MD,&nbsp;Shaimaa El-Jaafary MD,&nbsp;Woong-Woo Lee MD, PhD,&nbsp;Harutyun Madoev MSc,&nbsp;Orlando G.P. Barsottini MD, PhD,&nbsp;Achal Kumar Srivastava MD, DM,&nbsp;Christine Klein MD,&nbsp;Bart P. van de Warrenburg MD, PhD","doi":"10.1002/mds.30302","DOIUrl":"10.1002/mds.30302","url":null,"abstract":"<p>The landscape of genetic ataxias is influenced by migration, population genetics, consanguinity, and founder effects, resulting in significant regional variation. Within the expanding domain of genetic ataxias, knowledge of regional epidemiology is scarce, particularly outside of North America and Europe. Understanding the epidemiology of genetic ataxias, together with deep phenotyping and knowledge of the appropriate ancillary studies, is crucial for the development and deployment of diagnostic testing strategies. This review offers a comprehensive, data-driven overview of 2932 articles with regional epidemiological estimates and the occurrence and prevalence of 548 genes associated with ataxia across 122 countries. Regional differences in epidemiology and phenotypic spectra are highlighted, driving an approach that incorporates complementary diagnostic test results and how these may inform cost-effective, region-specific genetic testing. All data are also publicly available as an online database, the MDSGene Global Genetic Ataxia Resource, accessible at https://www.mdsgene.org/ataxia.html. A phenotype-guided, tailored, and sequential testing approach is proposed, based on regional prevalence, to assist clinicians worldwide in diagnosing individuals with presumed genetic ataxia, of which at least 45 causes are treatable. This approach is particularly important in underserved regions, but also in developed countries where health systems limit access to genetic testing, improving the cost-effectiveness and feasibility of genetic testing in these areas. Future screening studies in high-income settings should adopt a more comprehensive approach, integrating broader genetic testing that covers the full range of genetic ataxias. Capacity building for genetic screening in underserved regions, particularly in Africa, South America, and the Middle East, should be prioritized. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 9","pages":"1805-1820"},"PeriodicalIF":7.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144664230","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
July Infographic 7月信息
IF 7.6 1区 医学
Movement Disorders Pub Date : 2025-07-18 DOI: 10.1002/mds.29853
{"title":"July Infographic","authors":"","doi":"10.1002/mds.29853","DOIUrl":"10.1002/mds.29853","url":null,"abstract":"<p>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 Neurodegenerative and neurodevelopmental roles for bulk lipid transporters <i>VPS13A</i> and <i>BLTP2</i></p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 7","pages":""},"PeriodicalIF":7.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1002/mds.29853","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144647153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Movement Disorders: Volume 40, Number 7, July 2025 运动障碍:卷40,第7号,2025年7月
IF 7.6 1区 医学
Movement Disorders Pub Date : 2025-07-18 DOI: 10.1002/mds.30305
{"title":"Movement Disorders: Volume 40, Number 7, July 2025","authors":"","doi":"10.1002/mds.30305","DOIUrl":"10.1002/mds.30305","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 7","pages":""},"PeriodicalIF":7.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30305","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144647154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Towards Adaptive Deep Brain Stimulation for Non-Motor Symptoms in Parkinson's Disease? 适应性深部脑刺激治疗帕金森病非运动症状?
IF 7.6 1区 医学
Movement Disorders Pub Date : 2025-07-18 DOI: 10.1002/mds.30212
Bart E.K.S. Swinnen MD, PhD, Colin W. Hoy PhD, Simon J. Little MD, PhD
{"title":"Towards Adaptive Deep Brain Stimulation for Non-Motor Symptoms in Parkinson's Disease?","authors":"Bart E.K.S. Swinnen MD, PhD,&nbsp;Colin W. Hoy PhD,&nbsp;Simon J. Little MD, PhD","doi":"10.1002/mds.30212","DOIUrl":"10.1002/mds.30212","url":null,"abstract":"<p>Non-motor symptoms are prevalent, disabling, and difficult to treat at all stages of Parkinson's disease (PD). Whereas current deep brain stimulation (DBS) for PD targets motor symptoms, quality of life improvement, or lack thereof, is often largely determined by non-motor symptoms. So far, the effect of DBS on non-motor PD symptoms is insufficient, and neuromodulation targeted specifically at improving non-motor PD symptoms has been largely unaddressed. In this review, we provide a comprehensive overview of the effect of DBS on non-motor PD symptoms and discuss DBS-induced non-motor side effects including apathy and hypomania. We highlight the distinct neuroanatomical and temporal dynamics of these non-motor PD aspects. With the recent emergence of sensing-enabled DBS devices, we propose that research into responsive neuromodulation targeted specifically at non-motor symptoms is now feasible and timely. We outline potential non-motor adaptive DBS (aDBS) strategies that could be tested with currently available hardware. We conclude by highlighting important challenges that would need to be addressed for implementing aDBS for non-motor symptoms in PD. These include physiomarker validation, optimization of aDBS algorithms and control policies, the need for technological innovations, and incorporating ethical considerations. This review aims to provide a roadmap for clinicians and researchers to accelerate the development of non-motor aDBS in PD. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 9","pages":"1759-1777"},"PeriodicalIF":7.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144652890","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信