Dentate Nucleus Deep Brain Stimulation for Spinocerebellar Ataxia: Results of a 6‐Month Follow‐Up
齿状核深部脑刺激治疗脊髓小脑共济失调:6个月随访的结果
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-08
DOI: 10.1002/mds.70116
Liang Zhao, Chang Qiu, Wenwen Dong, Bei Luo, Jian Sun, Jiuqi Yan, Xiang Wei, Guanghan Lu, Jingxuan Liu, Wenbin Zhang
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{"title":"Dentate Nucleus Deep Brain Stimulation for Spinocerebellar Ataxia: Results of a 6‐Month Follow‐Up","authors":"Liang Zhao, Chang Qiu, Wenwen Dong, Bei Luo, Jian Sun, Jiuqi Yan, Xiang Wei, Guanghan Lu, Jingxuan Liu, Wenbin Zhang","doi":"10.1002/mds.70116","DOIUrl":"https://doi.org/10.1002/mds.70116","url":null,"abstract":"Background Spinocerebellar ataxia (SCA) is a genetically heterogeneous neurodegenerative disorder with no effective treatments. Although noninvasive cerebellar neuromodulation has shown positive outcomes, invasive approaches such as deep brain stimulation (DBS) remain inadequately evaluated in SCA. Objectives This study assessed the treatment outcomes of DBS targeting the cerebellar dentate nucleus (DN) in SCA patients over a 6‐month follow‐up. Methods Six patients with heterogeneous SCA underwent bilateral DN‐DBS. The stimulation parameters were programmed iteratively, and ataxia symptoms were evaluated at predefined intervals using the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS). Results Individualized appropriate stimulation parameters (current, frequency, and pulse width) were established. At the 6‐month follow‐up, the SARA scores decreased by 43% ( <jats:italic>P</jats:italic> = 0.014) and the ICARS scores by 51% ( <jats:italic>P</jats:italic> = 0.013) compared with baseline. Conclusions These findings provide evidence for the potential therapeutic efficacy of DN‐DBS in SCA and offer preliminary insights for stimulation parameter programming. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"108 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145461268","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}
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Expanding the Genetic and Phenotypic Spectrum of DYT ‐ VPS16 : The Importance of Splice‐Site Variants
扩展DYT - VPS16的遗传和表型谱:剪接位点变异的重要性
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-07
DOI: 10.1002/mds.70089
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella
Background <jats:styled-content style="fixed-case">DYT</jats:styled-content> ‐ <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> , an early‐onset isolated dystonia caused by variants in the <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of <jats:styled-content style="fixed-case">DYT</jats:styled-content> ‐ <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> by investigating early‐onset dystonia patients with <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variants discovered in our large Biodatabank and through gene‐matching initiatives. Patient samples were analyzed by exome/Sanger and <jats:styled-content style="fixed-case">RNA</jats:styled-content> / <jats:styled-content style="fixed-case">cDNA</jats:styled-content> sequencing. Results We identified 16 previously unreported <jats:styled-content style="fixed-case">DYT</jats:styled-content> ‐ <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> patients (7 male, median age at onset [ <jats:styled-content style="fixed-case">AAO]</jats:styled-content> : 12 years). Patients with initial leg involvement had an <jats:styled-content style="fixed-case">AAO</jats:styled-content> more than 10 years earlier than those with involvement of the arms/craniocervical region. Dystonia progressed in 95%, generalized in 50%, and was accompanied by pyramidal, cerebellar, or psychiatric features in 25% of patients. Two young individuals benefited greatly from timely deep brain stimulation (DBS) surgery. Of the 11 identified <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variants, 10 were novel. Utilizing <jats:styled-content style="fixed-case">RNA</jats:styled-content> ‐Seq or <jats:styled-content style="fixed-case">cDNA</jats:styled-content> sequencing, we discovered alternatively spliced transcripts, thereby elucidating the effects of splice‐site, near‐splice‐site, and exonic variants. Conclusions We expand the phenotypic and mutational spectrum of <jats:styled-content style="fixed-case">DYT</jats:styled-content> ‐ <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> , emphasize the utility of <jats:styled-content style="fixed-case">RNA</jats:styled-content> ‐Seq in clarifying <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variant pathogenicity, and advocate for timely DBS as a promising therapeutic option for <jats:styled-content style="fixed-case">DYT</jats:styled-content> ‐ <jats:styled-content style="fixed-case"> <jats:italic>VPS16</jats:italic> </jats:styled-content> patients. © 2025 The Author(s). <jats:italic>Movement Disorders</j
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{"title":"Expanding the Genetic and Phenotypic Spectrum of DYT ‐ VPS16 : The Importance of Splice‐Site Variants","authors":"Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella","doi":"10.1002/mds.70089","DOIUrl":"https://doi.org/10.1002/mds.70089","url":null,"abstract":"Background <jats:styled-content style=\"fixed-case\">DYT</jats:styled-content> ‐ <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> , an early‐onset isolated dystonia caused by variants in the <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of <jats:styled-content style=\"fixed-case\">DYT</jats:styled-content> ‐ <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> by investigating early‐onset dystonia patients with <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variants discovered in our large Biodatabank and through gene‐matching initiatives. Patient samples were analyzed by exome/Sanger and <jats:styled-content style=\"fixed-case\">RNA</jats:styled-content> / <jats:styled-content style=\"fixed-case\">cDNA</jats:styled-content> sequencing. Results We identified 16 previously unreported <jats:styled-content style=\"fixed-case\">DYT</jats:styled-content> ‐ <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> patients (7 male, median age at onset [ <jats:styled-content style=\"fixed-case\">AAO]</jats:styled-content> : 12 years). Patients with initial leg involvement had an <jats:styled-content style=\"fixed-case\">AAO</jats:styled-content> more than 10 years earlier than those with involvement of the arms/craniocervical region. Dystonia progressed in 95%, generalized in 50%, and was accompanied by pyramidal, cerebellar, or psychiatric features in 25% of patients. Two young individuals benefited greatly from timely deep brain stimulation (DBS) surgery. Of the 11 identified <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variants, 10 were novel. Utilizing <jats:styled-content style=\"fixed-case\">RNA</jats:styled-content> ‐Seq or <jats:styled-content style=\"fixed-case\">cDNA</jats:styled-content> sequencing, we discovered alternatively spliced transcripts, thereby elucidating the effects of splice‐site, near‐splice‐site, and exonic variants. Conclusions We expand the phenotypic and mutational spectrum of <jats:styled-content style=\"fixed-case\">DYT</jats:styled-content> ‐ <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> , emphasize the utility of <jats:styled-content style=\"fixed-case\">RNA</jats:styled-content> ‐Seq in clarifying <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> variant pathogenicity, and advocate for timely DBS as a promising therapeutic option for <jats:styled-content style=\"fixed-case\">DYT</jats:styled-content> ‐ <jats:styled-content style=\"fixed-case\"> <jats:italic>VPS16</jats:italic> </jats:styled-content> patients. © 2025 The Author(s). <jats:italic>Movement Disorders</j","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"28 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145455458","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}
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Glucocerebrosidase Target Engagement and Therapeutic Plasma and Cerebrospinal Fluid Levels After GT ‐02287 Administration in Healthy Volunteers
健康志愿者服用GT‐02287后葡萄糖脑苷酶靶点参与和治疗血浆和脑脊液水平
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-06
DOI: 10.1002/mds.70111
Raffaella Pozzi, Michele De Sciscio, Manuela Bosetti, Sara Cano‐Crespo, Joanne Taylor, Terenzio Ignoni, Jonas Hannestad
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{"title":"Glucocerebrosidase Target Engagement and Therapeutic Plasma and Cerebrospinal Fluid Levels After GT ‐02287 Administration in Healthy Volunteers","authors":"Raffaella Pozzi, Michele De Sciscio, Manuela Bosetti, Sara Cano‐Crespo, Joanne Taylor, Terenzio Ignoni, Jonas Hannestad","doi":"10.1002/mds.70111","DOIUrl":"https://doi.org/10.1002/mds.70111","url":null,"abstract":"Background Variants in the <jats:italic>GBA1</jats:italic> gene can increase the risk of Parkinson's disease (PD) by reducing glucocerebrosidase (GCase) activity, disrupting lysosomal and mitochondrial function, and increasing alpha‐synuclein aggregation. The molecule GT‐02287 prevents misfolding of GCase and ameliorates downstream pathway abnormalities. Objectives To assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of GT‐02287. Methods The safety, tolerability, and plasma pharmacokinetics of single and multiple oral doses were evaluated in 73 healthy volunteers, and GT‐02287 levels in cerebrospinal fluid (CSF) and GCase activity in blood were measured. Results All dose levels tested were safe and generally well‐tolerated. No serious or severe adverse events occurred. The most common events were nausea and headache. Plasma and CSF exposures were within the projected therapeutic range, and GCase activity increased after GT‐02287 administration. Conclusions GT‐02287 was safe and well‐tolerated in healthy volunteers. Plasma and CSF levels were consistent with levels in rodents that modulate PD biology. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"95 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145447386","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}
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Integrative Multi-Omics Analysis Prioritizes Candidate Genes for Essential Tremor and Reveals a Gap Between Computational Prediction and Experimental Validation.
综合多组学分析为特发性震颤的候选基因排序,揭示了计算预测和实验验证之间的差距。
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-03
DOI: 10.1002/mds.70101
Aishanjiang Yusufujiang,Shan Zeng,Likun Xu,Gong Li,Zebin Wang,Hongyan Li
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{"title":"Integrative Multi-Omics Analysis Prioritizes Candidate Genes for Essential Tremor and Reveals a Gap Between Computational Prediction and Experimental Validation.","authors":"Aishanjiang Yusufujiang,Shan Zeng,Likun Xu,Gong Li,Zebin Wang,Hongyan Li","doi":"10.1002/mds.70101","DOIUrl":"https://doi.org/10.1002/mds.70101","url":null,"abstract":"BACKGROUNDThe genetic architecture of essential tremor (ET) remains incompletely understood. A key challenge is translating genome-wide association study (GWAS) loci into specific effector genes to elucidate disease mechanisms and develop targeted therapies.OBJECTIVETo implement a multistage computational framework to prioritize high-confidence candidate genes for ET and to assess these predictions against publicly available, patient-derived transcriptomic data.METHODSWe employed a convergent evidence strategy to prioritize genes, integrating cross-tissue (UTMOST) and tissue-specific (FUSION) transcriptome-wide association studies (TWAS) with gene-based association tests (MAGMA). Prioritized genes were subjected to causal inference analyses (summary-data-based Mendelian randomization [SMR] and colocalization), co-expression network analysis (GeneMANIA), and pharmacogenomic analysis (DGIdb). We leveraged spatial transcriptomics to characterize gene expression patterns across cortical layers and cell types. Finally, we validated computational predictions using two independent post-mortem brain datasets from ET patients and controls.RESULTSOur prioritization pipeline identified 12 high-confidence candidate genes. Co-expression network analysis revealed 83.3% of candidates exhibit functional relationships, forming three modules centered on RNA processing (NRBP1), metabolic regulation (SLC5A6), and nucleotide synthesis (CAD). Pharmacogenomic analysis demonstrated 66.7% of candidates possess therapeutic target potential. Spatial transcriptomics revealed preferential expression in cortical Layer 5 pyramidal neurons. However, validation in post-mortem cerebellar tissue showed no significant differential expression.CONCLUSIONSOur study provides a robust pipeline for ET gene prioritization and puts forward a novel cortical hypothesis for the disease. The discordance between strong computational predictions and their lack of validation in available patient tissue highlights a critical gap in the field. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"54 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145427862","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}
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Genetic Variation Analysis of Essential Tremor: Insights from the China Essential Tremor Alliance Cohort.
原发性震颤的遗传变异分析:来自中国原发性震颤联盟队列的见解。
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-03
DOI: 10.1002/mds.70106
Mingqiang Li,Yuwen Zhao,Yuzheng Wang,Runcheng He,Guohua Zhao,Xuejing Wang,Yanming Xu,Hongmei Cao,Hong Liu,Chengjie Mao,Heng Wu,Wei Di,Yuhu Zhang,Puqing Wang,Wei Huang,Yan Xu,Oumei Cheng,Guiyun Cui,Zhentao Zhang,Kezhong Zhang,Yiwen Wu,Tao Chen,Nian Xiong,Lifang Lei,Xun Zhou,Hongxu Pan,Xiaomei Duan,Sheng Zeng,Dong Chang,Liang Jin,Jinchen Li,Qian Xu,Zhenhua Liu,Jifeng Guo,Chunyu Wang,Tao Wang,Chunfeng Liu,Jun Liu,Qiying Sun,Beisha Tang,
BACKGROUND AND OBJECTIVEEssential tremor (ET) is a common movement disorder (MD) with significant genetic contributions, yet its genetic basis remains poorly understood. To clarify ET's genetic architecture and improve clinical diagnostics, we investigated pathogenic variants and their clinical implications in a large Chinese cohort.METHODSWhole-genome sequencing was conducted on 3097 Chinese patients with ET and 2050 healthy control subjects. We analyzed variants within 26 known ET-associated genes and 437 broader MD-associated genes. Variants were classified as pathogenic or likely pathogenic (P/LP) following American College of Medical Genetics and Genomics guidelines.RESULTSTwenty-six patients with ET (0.84%) harbored P/LP variants in ET-associated genes, involving eight genes and 24 distinct variants, with CACNA1G (n = 9) and GPR151 (n = 4) most frequently implicated. Only two patients carried previously reported ET-associated variants. Genetic segregation analysis in five families did not confirm clear cosegregation. In addition, 83 patients (2.68%) carried P/LP variants in broader MD-associated genes, notably, GSN (n = 7), FAT2 (n = 6), and FIG4 (n = 6). Clinical follow-up rediagnosed six individuals carrying GCH1, SGCE, GRN, and NOTCH3 variants with alternative MDs, and two individuals with PRKN and PSEN1 variants developed additional MDs. The remaining patients maintained ET diagnosis without MD progression. Six individuals (0.24%) were identified with Klinefelter's syndrome (47, XXY).CONCLUSIONSOur findings underscore ET's genetic heterogeneity. Integrating genetic screening and longitudinal clinical evaluation is critical for precise diagnosis and identifying patients at risk for alternative or concurrent MDs. © 2025 International Parkinson and Movement Disorder Society.
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{"title":"Genetic Variation Analysis of Essential Tremor: Insights from the China Essential Tremor Alliance Cohort.","authors":"Mingqiang Li,Yuwen Zhao,Yuzheng Wang,Runcheng He,Guohua Zhao,Xuejing Wang,Yanming Xu,Hongmei Cao,Hong Liu,Chengjie Mao,Heng Wu,Wei Di,Yuhu Zhang,Puqing Wang,Wei Huang,Yan Xu,Oumei Cheng,Guiyun Cui,Zhentao Zhang,Kezhong Zhang,Yiwen Wu,Tao Chen,Nian Xiong,Lifang Lei,Xun Zhou,Hongxu Pan,Xiaomei Duan,Sheng Zeng,Dong Chang,Liang Jin,Jinchen Li,Qian Xu,Zhenhua Liu,Jifeng Guo,Chunyu Wang,Tao Wang,Chunfeng Liu,Jun Liu,Qiying Sun,Beisha Tang, ","doi":"10.1002/mds.70106","DOIUrl":"https://doi.org/10.1002/mds.70106","url":null,"abstract":"BACKGROUND AND OBJECTIVEEssential tremor (ET) is a common movement disorder (MD) with significant genetic contributions, yet its genetic basis remains poorly understood. To clarify ET's genetic architecture and improve clinical diagnostics, we investigated pathogenic variants and their clinical implications in a large Chinese cohort.METHODSWhole-genome sequencing was conducted on 3097 Chinese patients with ET and 2050 healthy control subjects. We analyzed variants within 26 known ET-associated genes and 437 broader MD-associated genes. Variants were classified as pathogenic or likely pathogenic (P/LP) following American College of Medical Genetics and Genomics guidelines.RESULTSTwenty-six patients with ET (0.84%) harbored P/LP variants in ET-associated genes, involving eight genes and 24 distinct variants, with CACNA1G (n = 9) and GPR151 (n = 4) most frequently implicated. Only two patients carried previously reported ET-associated variants. Genetic segregation analysis in five families did not confirm clear cosegregation. In addition, 83 patients (2.68%) carried P/LP variants in broader MD-associated genes, notably, GSN (n = 7), FAT2 (n = 6), and FIG4 (n = 6). Clinical follow-up rediagnosed six individuals carrying GCH1, SGCE, GRN, and NOTCH3 variants with alternative MDs, and two individuals with PRKN and PSEN1 variants developed additional MDs. The remaining patients maintained ET diagnosis without MD progression. Six individuals (0.24%) were identified with Klinefelter's syndrome (47, XXY).CONCLUSIONSOur findings underscore ET's genetic heterogeneity. Integrating genetic screening and longitudinal clinical evaluation is critical for precise diagnosis and identifying patients at risk for alternative or concurrent MDs. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"152 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145427884","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}
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The rs6971 TSPO Polymorphism Does Not Influence Disease Presentation or Progression in Parkinson's Disease rs6971 TSPO Polymorphism in PD
rs6971 TSPO多态性不影响帕金森病的发病或进展
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-03
DOI: 10.1002/mds.70105
Bina Patel, Marta Camacho, Jonathan R. Evans, David P. Breen, Thomas Foltynie, Sarah L. Mason, Gemma Cummins, Ruwani Wijeyekoon, Roger A. Barker, Caroline Helen Williams‐Gray
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{"title":"The rs6971 TSPO Polymorphism Does Not Influence Disease Presentation or Progression in Parkinson's Disease rs6971 TSPO Polymorphism in PD","authors":"Bina Patel, Marta Camacho, Jonathan R. Evans, David P. Breen, Thomas Foltynie, Sarah L. Mason, Gemma Cummins, Ruwani Wijeyekoon, Roger A. Barker, Caroline Helen Williams‐Gray","doi":"10.1002/mds.70105","DOIUrl":"https://doi.org/10.1002/mds.70105","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"167 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145427428","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}
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Comments on "Measuring What Matters in Parkinson's Disease Research and Dysphagia: The Need for Core Outcome Sets".
对“衡量帕金森病研究和吞咽困难的重要因素:对核心结果集的需求”的评论。
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-01
DOI: 10.1002/mds.70113
Tao Xie,Lisa Bloom,Ellen McCracken
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{"title":"Comments on \"Measuring What Matters in Parkinson's Disease Research and Dysphagia: The Need for Core Outcome Sets\".","authors":"Tao Xie,Lisa Bloom,Ellen McCracken","doi":"10.1002/mds.70113","DOIUrl":"https://doi.org/10.1002/mds.70113","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"27 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145411652","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}
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Reply to "Comments on 'Measuring What Matters in Parkinson's Disease Research and Dysphagia: The Need for Core Outcome Sets'".
回复“关于‘衡量帕金森病研究和吞咽困难的重要因素:需要核心结果集’的评论”。
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-01
DOI: 10.1002/mds.70112
Julia Hirschwald,Tobias Warnecke
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{"title":"Reply to \"Comments on 'Measuring What Matters in Parkinson's Disease Research and Dysphagia: The Need for Core Outcome Sets'\".","authors":"Julia Hirschwald,Tobias Warnecke","doi":"10.1002/mds.70112","DOIUrl":"https://doi.org/10.1002/mds.70112","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"1 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145411655","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}
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Assessing Digital Health Technologies for Outcome Measurement in Parkinson's Disease Drug Trials: A Systematic Review.
评估帕金森病药物试验结果测量的数字健康技术:系统综述。
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-11-01
DOI: 10.1002/mds.70097
Sasivimol Virameteekul,Chaewon Shin,Siegfried S Hirczy,Harini Sarva,Serene S Paul,Walter Maetzler,Anat Mirelman,Ruth B Schneider,Jeffrey M Hausdorff,Joaquin A Vizcarra,Jochen Klucken,Mariana H G Monje,Martina Mancini,Paolo Bonato,Alice Nieuwboer,Fay B Horak,Lynn Rochester,Alvaro Sanchez-Ferro,Cinzia Zatti,Margherita Fabbri,Tiago A Mestre,Ralf Reilmann,Alberto J Espay,Bastiaan R Bloem,Andrea Pilotto,Roongroj Bhidayasiri,
Traditional clinical assessments in Parkinson's disease (PD) trials are limited by subjectivity and inter-rater variability. Digital health technologies (DHT) offer an objective continuous assessment of motor symptoms and are increasingly used in clinical research. This review evaluated the role of DHTs as outcome tools in pharmacological trials for PD. A systematic search of MEDLINE and Embase was conducted according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, covering studies up to August 31, 2025. Eligible studies included randomized controlled trials, open-label or crossover designs, and observational studies using DHTs to assess motor outcome variables in PD. Studies focusing only on technology development or with fewer than 10 participants were excluded. Data extracted included study design, DHT type, assessment setting, and motor parameters measured. Study quality was appraised using an eight-criterion tool, and level of evidence was rated using the Oxford Centre for Evidence-Based Medicine framework. A total of 42 studies were included, covering 26 distinct DHTs. These comprised 11 wearable sensors and 15 nonwearable systems such as motion capture platforms and force-sensing assessments. DHTs were used to measure bradykinesia, tremor, gait, balance, and nocturnal motor symptoms in both supervised and unsupervised settings. Fifteen studies were rated as high quality, 14 moderate, and 13 low. Among currently available tools, only Opal reached the threshold of Level 1a evidence. Other validated tools included the Parkinson's Kinetigraph, Actiwatch, and Roche PD Mobile Application (Level 1b). DHTs offer valuable tools for objective assessment in PD trials, though broader adoption requires greater standardization and regulatory alignment. © 2025 International Parkinson and Movement Disorder Society.
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Advertising to Healthcare Professionals: Insights from Parkinson's Disease in the Movement Disorders Journal
对医疗保健专业人员的广告:运动障碍杂志上帕金森病的见解
IF 8.6
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2025-10-30
DOI: 10.1002/mds.70108
Augusto Rachão, António Silva, Luísa Prada, Joana Pona‐Ferreira, Margherita Fabbri, Filipe B. Rodrigues, Tiago A. Mestre, Miguel Coelho, Mário M. Rosa, Werner Poewe, Olivier Rascol, Francisco E.C. Cardoso, Joaquim J. Ferreira
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