Movement Disorders最新文献

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Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder 迪斯科相互作用蛋白2同源物B - CGG重复扩增与神经发育障碍和进行性运动障碍的兄弟姐妹。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-24 DOI: 10.1002/mds.30101
Emilie T. Théberge MSc, Kate Durbano MD, Diane Demailly MD, Sophie Huby MD, Aleksandra Mitina PhD, Yue Yin MSc, Arezoo Mohajeri MSc, Care4Rare Canada Consortium, Clara van Karnebeek MD, PhD, Gabriella A. Horvath MD, PhD, Ryan K.C. Yuen PhD, Karen Usdin PhD, Anna Lehman MD, Laura Cif MD, PhD, Phillip A. Richmond PhD
{"title":"Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder","authors":"Emilie T. Théberge MSc,&nbsp;Kate Durbano MD,&nbsp;Diane Demailly MD,&nbsp;Sophie Huby MD,&nbsp;Aleksandra Mitina PhD,&nbsp;Yue Yin MSc,&nbsp;Arezoo Mohajeri MSc,&nbsp;Care4Rare Canada Consortium,&nbsp;Clara van Karnebeek MD, PhD,&nbsp;Gabriella A. Horvath MD, PhD,&nbsp;Ryan K.C. Yuen PhD,&nbsp;Karen Usdin PhD,&nbsp;Anna Lehman MD,&nbsp;Laura Cif MD, PhD,&nbsp;Phillip A. Richmond PhD","doi":"10.1002/mds.30101","DOIUrl":"10.1002/mds.30101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two male siblings with a CGG repeat expansion in the 5′-untranslated region (UTR) of disco-interacting protein 2 homolog B (<i>DIP2B</i>) presented with a novel <i>DIP2B</i> phenotype, including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (chorea, dystonia, and ataxia).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first report of a severe progressive movement disorder phenotype associated with a CGG repeat expansion in the <i>DIP2B</i> 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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"567-578"},"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
Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Causal Genes for Neurodegenerative Diseases 线粒体相关全基因组孟德尔随机化鉴定神经退行性疾病的推定致病基因
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30123
Zheyi Wang PhD, Yize Sun PhD, Zetai Bai MD, Mei Li PhD, Deyuan Kong MD, Guanzhao Wu PhD
{"title":"Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Causal Genes for Neurodegenerative Diseases","authors":"Zheyi Wang PhD,&nbsp;Yize Sun PhD,&nbsp;Zetai Bai MD,&nbsp;Mei Li PhD,&nbsp;Deyuan Kong MD,&nbsp;Guanzhao Wu PhD","doi":"10.1002/mds.30123","DOIUrl":"10.1002/mds.30123","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Genetically predicted levels of 10 genes were found to be significantly associated with the risk of NDDs. Elevated <i>DMPK</i> and <i>LACTB2</i> levels were associated with increased Alzheimer's disease risk. Higher expression of <i>NDUFAF2</i>, <i>BCKDK</i>, and <i>MALSU1</i>, along with lower <i>TTC19</i>, raised Parkinson's disease risk. Higher <i>ACLY</i> levels were associated with both amyotrophic lateral sclerosis and multiple sclerosis (MS) risks, while decreased <i>MCL1</i>, <i>TOP3A</i>, and <i>VWA8</i> 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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 4","pages":"693-703"},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997055","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
January Infographic 图1月
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.29841
{"title":"January Infographic","authors":"","doi":"10.1002/mds.29841","DOIUrl":"10.1002/mds.29841","url":null,"abstract":"<p>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 Insulin resistance is a modifying factor for Parkinson's disease</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1002/mds.29841","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143020086","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
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
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30128
YuHong Fu PhD, Gabrielle L. Adler BSc (Hon), Priscilla Youssef PhD, Katherine Phan PhD, Glenda M. Halliday PhD, Nicolas Dzamko PhD, Woojin Scott Kim PhD
{"title":"Human Endogenous Retrovirus K in Astrocytes Is Altered in Parkinson's Disease","authors":"YuHong Fu PhD,&nbsp;Gabrielle L. Adler BSc (Hon),&nbsp;Priscilla Youssef PhD,&nbsp;Katherine Phan PhD,&nbsp;Glenda M. Halliday PhD,&nbsp;Nicolas Dzamko PhD,&nbsp;Woojin Scott Kim PhD","doi":"10.1002/mds.30128","DOIUrl":"10.1002/mds.30128","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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). <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 4","pages":"683-692"},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30128","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997033","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
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
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30080
Emil K. Gustavsson PhD
{"title":"Editorial on: Confirmation of RAB32 Ser71Arg involvement in Parkinson's disease","authors":"Emil K. Gustavsson PhD","doi":"10.1002/mds.30080","DOIUrl":"10.1002/mds.30080","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":"5-6"},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997098","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
Movement Disorders: Volume 40, Number 1, January 2025 运动障碍:第40卷,第1期,2025年1月
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30122
{"title":"Movement Disorders: Volume 40, Number 1, January 2025","authors":"","doi":"10.1002/mds.30122","DOIUrl":"10.1002/mds.30122","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143020088","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
Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks 基于步态视频的小脑共济失调严重程度深度神经网络预测
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30113
Katsuki Eguchi MD, PhD, Hiroaki Yaguchi MD, PhD, Hisashi Uwatoko MD, PhD, Yuki Iida MD, PhD, Shinsuke Hamada MD, PhD, Sanae Honma MD, PhD, Asako Takei MD, PhD, Fumio Moriwaka MD, PhD, Ichiro Yabe MD, PhD
{"title":"Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks","authors":"Katsuki Eguchi MD, PhD,&nbsp;Hiroaki Yaguchi MD, PhD,&nbsp;Hisashi Uwatoko MD, PhD,&nbsp;Yuki Iida MD, PhD,&nbsp;Shinsuke Hamada MD, PhD,&nbsp;Sanae Honma MD, PhD,&nbsp;Asako Takei MD, PhD,&nbsp;Fumio Moriwaka MD, PhD,&nbsp;Ichiro Yabe MD, PhD","doi":"10.1002/mds.30113","DOIUrl":"10.1002/mds.30113","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pose estimation algorithms applied to two-dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim was to assess whether a pose estimation algorithm can predict the severity of cerebellar ataxia by applying it to gait videos.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We video-recorded 66 patients with degenerative cerebellar diseases performing the timed up-and-go test. Key points from the gait videos extracted by a pose estimation algorithm were input into a deep learning model to predict the Scale for the Assessment and Rating of Ataxia (SARA) score. We also evaluated video segments that the model focused on to predict ataxia severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The model achieved a root-mean-square error of 2.30 and a coefficient of determination of 0.79 in predicting the SARA score. It primarily focused on standing, turning, and body sway to assess severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrated that the model may capture gait characteristics from key-point data and has the potential to predict SARA scores. © 2025 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 4","pages":"752-758"},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142991995","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
Welcoming 2025 and a New Editorial Term 欢迎2025年和一个新的编辑任期。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-22 DOI: 10.1002/mds.30106
A. Jon Stoessl CM, MD, FRCPC, FCAHS
{"title":"Welcoming 2025 and a New Editorial Term","authors":"A. Jon Stoessl CM, MD, FRCPC, FCAHS","doi":"10.1002/mds.30106","DOIUrl":"10.1002/mds.30106","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":"1-2"},"PeriodicalIF":7.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997101","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
Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial 一种新型抗震颤矫形器抑制特发性震颤:一项随机交叉试验。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-21 DOI: 10.1002/mds.30082
Winfred Mugge PhD, Liset E.M. Elstgeest PhD, Milan van Ginkel MSc, Lucas Pol BSc, IJsbrand de Lange MSc, Nicola Pambakian MSc, Alvaro Assis de Souza MSc, Rick C. Helmich MD, PhD, Daan J. Kamphuis MD
{"title":"Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial","authors":"Winfred Mugge PhD,&nbsp;Liset E.M. Elstgeest PhD,&nbsp;Milan van Ginkel MSc,&nbsp;Lucas Pol BSc,&nbsp;IJsbrand de Lange MSc,&nbsp;Nicola Pambakian MSc,&nbsp;Alvaro Assis de Souza MSc,&nbsp;Rick C. Helmich MD, PhD,&nbsp;Daan J. Kamphuis MD","doi":"10.1002/mds.30082","DOIUrl":"10.1002/mds.30082","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Essential tremor (ET) is characterized by action tremor of the arms, which can interfere substantially with daily activities. Pharmacotherapy may be ineffective or associated with side effects, and stereotactic surgery is invasive. Hence, new accessible treatment options are urgently needed. An easy-to-use and lightweight orthotic device that exerts joint damping may provide an alternative solution for reducing tremor in daily activities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Our goal was to assess the efficacy of a novel anti-tremor orthosis (STIL) in reducing clinical and accelerometry measures of distal arm tremor in ET.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In a randomized crossover single-blinded trial in 24 ET patients in a hospital setting, we compared three conditions: no orthosis (baseline), a sham device, and the anti-tremor orthosis (order randomized). The orthosis, but not the sham device, passively damped joints in the forearm. Participants performed seven tasks from the Tremor Research Group Essential Tremor Rating Scale (TETRAS). The two co-primary outcome measures were: clinical tremor severity (video-scored TETRAS) and tremor power (accelerometry). Patient satisfaction was self-assessed using the Dutch Quebec User Evaluation of Satisfaction with assistive Technology. Conditions were compared using Wilcoxon signed-rank tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The anti-tremor orthosis significantly reduced TETRAS scores compared to sham and baseline (baseline: 19.0 ± 3.2, sham: 13.7 ± 3.9, orthosis: 9.9 ± 3.6; mean ± standard deviation). Similar effects were observed for tremor power, which was reduced by 87.4% (orthosis vs. baseline) and 59.5% (orthosis vs. sham) across all tasks. A total of 71% of participants were (very) satisfied and 12.5% reported minor adverse events (discomfort/redness of skin).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The anti-tremor orthosis had a clinically relevant tremor-reducing effect in ET in a controlled setting, offering potential for a new treatment to manage ET in daily activities. © 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 3","pages":"445-455"},"PeriodicalIF":7.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997026","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
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene 听力损失家族与BCAP31基因新变异相关的X连锁共济失调综合征
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-20 DOI: 10.1002/mds.30116
Martin Paucar MD, PhD, Tianyi Li PhD, Åsa Bergendal PhD, Irina Savitcheva MD, PhD, Kaveh Pourhamidi MD, PhD, José M. Laffita-Mesa PhD, Ann Nordgren MD, PhD, Martin Engvall MD, PhD, Per Uhlén PhD, Kristina Lagerstedt-Robinson PhD, Per Svenningsson MD, PhD
{"title":"An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene","authors":"Martin Paucar MD, PhD,&nbsp;Tianyi Li PhD,&nbsp;Åsa Bergendal PhD,&nbsp;Irina Savitcheva MD, PhD,&nbsp;Kaveh Pourhamidi MD, PhD,&nbsp;José M. Laffita-Mesa PhD,&nbsp;Ann Nordgren MD, PhD,&nbsp;Martin Engvall MD, PhD,&nbsp;Per Uhlén PhD,&nbsp;Kristina Lagerstedt-Robinson PhD,&nbsp;Per Svenningsson MD, PhD","doi":"10.1002/mds.30116","DOIUrl":"10.1002/mds.30116","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Pathogenic variants in B-cell receptor-associated protein (<i>BCAP31)</i> are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. <i>BCAP31</i> encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca<sup>2+</sup>) concentration. Here, we characterize an X-linked syndrome, its underlying genotype, and a functional evaluation of the identified candidate genetic variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Evaluation of motor features, neuroimaging studies, neurophysiological, and cognitive tests. Whole exome sequencing (WES) was applied, a plasmid encoding <i>BCAP31</i> with and without a candidate variant was transfected into SH-SY5Y cells to assess subcellular location and to measure Ca<sup>2+</sup> levels in the cytoplasm.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Adult-onset ataxia, cognitive impairment, and hearing loss leading to deafness are the predominant features. Reduced penetrance, slow progression with preserved ability to walk in advance age, and universal cerebellar atrophy are other features for this syndrome. This condition is associated with the new variant c.22G&gt;A (V8I) in <i>BCAP31</i> at Xq28. The subcellular location of the V8I BCAP31 protein was not altered but caused significant elevation of cytosolic Ca<sup>2+</sup>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings expand the spectrum of variants in <i>BCAP31</i> from neurodevelopmental syndromes to include a progressive neurodegenerative disease with variable expressivity. This is the first time ataxia is described in association with a <i>BCAP31</i> variant and functional evidence of pathogenicity is provided. Additional <i>BCAP31</i> cases featuring ataxia are needed to establish an association. © 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 4","pages":"672-682"},"PeriodicalIF":7.4,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30116","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142991469","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
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