Movement Disorders最新文献

{"title":"Stimulation-Evoked Resonant Neural Activity in the Subthalamic Nucleus Is Modulated by Sleep.","authors":"Christoph Wiest, Thomas G Simpson, Alek Pogosyan, Harutomo Hasegawa, Shenghong He, Fernando Rodriguez Plazas, Laura Wehmeyer, Sahar Yassine, Xuanjun Guo, Rahul Shah, Anca Merla, Andrea Perera, Ahmed Raslan, Andrew O'Keeffe, Michael G Hart, Francesca Morgante, Erlick A Pereira, Keyoumars Ashkan, Huiling Tan","doi":"10.1002/mds.30063","DOIUrl":"https://doi.org/10.1002/mds.30063","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation is a treatment for advanced Parkinson's disease and currently tuned to target motor symptoms during daytime. Parkinson's disease is associated with multiple nocturnal symptoms such as akinesia, insomnia, and sleep fragmentation, which may require adjustments of stimulation during sleep for best treatment outcome.</p><p><strong>Objectives: </strong>There is a need for a robust biomarker to guide stimulation titration across sleep stages. This study aimed to investigate whether evoked resonant neural activity (ERNA) is modulated by sleep.</p><p><strong>Methods: </strong>We recorded local field potentials from the subthalamic nucleus of four Parkinson's patients with externalized electrodes while applying single stimulation pulses to investigate the effect of sleep on ERNA.</p><p><strong>Results: </strong>We found that ERNA features change with wakefulness and sleep stages and are correlated with canonical frequency bands and heart rate.</p><p><strong>Conclusions: </strong>Given that ERNA modulates with sleep, it could be used as a robust marker for automatic stimulation titration during sleep. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666180","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}

{"title":"Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, Safety, and Future Perspectives.","authors":"Saba Naghipour, Louise A Corben, Amy J Hulme, Mirella Dottori, Martin B Delatycki, Jarmon G Lees, Shiang Y Lim","doi":"10.1002/mds.30070","DOIUrl":"https://doi.org/10.1002/mds.30070","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666176","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}

{"title":"Skin Inflammatory Reactions in Patients with Continuous Subcutaneous Injection of Foslevodopa-Foscarbidopa Hydrate: Histopathology.","authors":"Nagisa Yoshihara, Noriko Nishikawa, Rei Watanabe, Nobutaka Hattori","doi":"10.1002/mds.30069","DOIUrl":"https://doi.org/10.1002/mds.30069","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666178","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}

{"title":"¹⁸F-Florzolotau PET Imaging Unveils Tau Pathology in Dementia with Lewy Bodies.","authors":"Gan Tang, Jia-Ying Lu, Xin-Yi Li, Rui-Xin Yao, Yu-Jie Yang, Fang-Yang Jiao, Ming-Jia Chen, Xiao-Niu Liang, Zi-Zhao Ju, Jing-Jie Ge, Yi-Xin Zhao, Bo Shen, Ping Wu, Yi-Min Sun, Jian-Jun Wu, Tzu-Chen Yen, Chuantao Zuo, Jian Wang, Qian-Hua Zhao, Hui-Wei Zhang, Feng-Tao Liu","doi":"10.1002/mds.30055","DOIUrl":"https://doi.org/10.1002/mds.30055","url":null,"abstract":"<p><strong>Background: </strong>Dementia with Lewy bodies (DLB) commonly exhibits a complex neuropathology, sharing characteristics with Alzheimer's disease (AD), including tau aggregates. However, studies using the ¹⁸F-AV-1451 tau tracer have shown inconsistent findings regarding both the extent and topographical distribution of tau pathology in DLB.</p><p><strong>Objectives: </strong>Our aim was to elucidate the topographical patterns of tau deposition in DLB and to investigate the in vivo pathological distinction between DLB and AD in virtue of the ¹⁸F-Florzolotau positron emission tomography (PET) imaging.</p><p><strong>Methods: </strong>This cross-sectional study enrolled patients with DLB (n = 24), AD (n = 43), and cognitively healthy controls (n = 18). Clinical assessments and ¹⁸F-Florzolotau PET imaging were performed. ¹⁸F-Florzolotau binding was quantitatively assessed on PET images using standardized uptake value ratios and voxel-wise analysis.</p><p><strong>Results: </strong>¹⁸F-Florzolotau PET imaging revealed widespread tau deposition across various cortical regions in DLB, uncovering heterogeneous topographical patterns. Among patients, 54.17% showed patterns similar to AD, whereas 16.67% exhibited distinct patterns. Compared to AD, DLB exhibited a unique in vivo neuropathological profile, characterized by a lower tau protein burden, heterogeneous topographical distributions, and a specific role of the medial temporal lobe in tau pathology.</p><p><strong>Conclusions: </strong>¹⁸F-Florzolotau PET imaging elucidated tau pathology patterns in DLB, providing valuable insights for future in vivo pathological differentiation and potential disease-modifying therapies. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142646414","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}

{"title":"Movement Disorders: Volume 39, Number 11, November 2024","authors":"","doi":"10.1002/mds.30059","DOIUrl":"10.1002/mds.30059","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 11","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645946","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}

{"title":"Response to Mortimer et al. “Clinical and molecular profiling in GNAO1 permits phenotype–genotype correlation”","authors":"Amaia Lasa-Aranzasti MD,&nbsp;Gonzalo P. Solis PhD,&nbsp;Vladimir L. Katanaev PhD,&nbsp;Belén Pérez-Dueñas MD, PhD","doi":"10.1002/mds.30018","DOIUrl":"10.1002/mds.30018","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 11","pages":"2125-2126"},"PeriodicalIF":7.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643570","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}

{"title":"Spastic Paresis: A Treatable Movement Disorder.","authors":"Jean-Michel Gracies, Katharine E Alter, Bo Biering-Sørensen, Julius P A Dewald, Dirk Dressler, Alberto Esquenazi, Jorge Hernandez Franco, Robert Jech, Ryuji Kaji, Lingjing Jin, Erle C H Lim, Preeti Raghavan, Raymond Rosales, Ali S Shalash, David M Simpson, Areerat Suputtitada, Michele Vecchio, Jörg Wissel","doi":"10.1002/mds.30038","DOIUrl":"https://doi.org/10.1002/mds.30038","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643568","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}

{"title":"Reply to: “Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation”","authors":"Mortimer Svec MD,&nbsp;Tobias Mantel MD,&nbsp;Michael Zech MD,&nbsp;Bernhard Haslinger MD","doi":"10.1002/mds.30017","DOIUrl":"10.1002/mds.30017","url":null,"abstract":"&lt;p&gt;With great interest we read the recently published article by Lasa-Aranzasti et al on clinical and molecular profiling of &lt;i&gt;GNAO1&lt;/i&gt;. The authors characterized the neurological phenotype and the molecular mechanisms caused by pathogenic Gɑo identified in a cohort of patients with &lt;i&gt;GNAO1&lt;/i&gt;-related disorders. They provided functional data underlying the proposed developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movement phenotypes.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Their study also included 1 patient exhibiting a rather mild phenotype with hyperkinetic movements (generalized chorea, myoclonus, and dystonia) associated with mild intellectual disability. The underlying mutation (p.Ile344del) was located at the end of protein and led the authors to the conclusion that milder phenotypes are correlated with splicing variants, previously hypothesized haploinsufficiency based on loss of function,&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; or variants at the end of the protein.&lt;/p&gt;&lt;p&gt;We report on a 34-year-old patient, who was referred to our movement disorders clinic to assess a 2-year-earlier-developed propranolol-resistant, myoclonic head tremor in the context of a cerebral palsy, which was prediagnosed due to delayed development of speech at age 4, despite the lack of a clear perinatal event. There was no history of epileptic seizures. At age 12 a slowly progressing action tremor of his right hand occurred, leading him to write with his left hand. He graduated regularly from secondary school and worked in logistics and later in farming. He performed skiing, hiking, and swimming without restraints.&lt;/p&gt;&lt;p&gt;At 32 years the tremor of his right hand had worsened, and he developed a myoclonic head tremor.&lt;/p&gt;&lt;p&gt;Our neurological examination at age 34 revealed segmental dystonia with predominant cervical dystonia with phasic abnormal rotation mainly to the left, laryngeal dystonia of the adductor type, slight postural tremor of the hands, and writing tremor with dystonic posture leading to an inability to write. His gait was mainly unaffected, showing only a reduced arm swing (Video 1).&lt;/p&gt;&lt;p&gt;His cognitive functions were slightly decreased, scoring 24/30 on the Montreal Cognitive Assessment test.&lt;/p&gt;&lt;p&gt;Brain magnetic resonance at age 32 demonstrated a slightly asymmetric ventricular system without further abnormalities. His family history (parents and four siblings) was negative for movement disorders or epilepsy.&lt;/p&gt;&lt;p&gt;Regarding the rather atypical presentation for cerebral palsy, we performed a trio-exome analysis that revealed a heterozygous de novo missense variant in &lt;i&gt;GNAO1&lt;/i&gt; (NM_020988.3:c.4G &gt; C,p.Gly2Arg), which was absent from control databases (in-house exomes, gnomAD version 4.0) and located in a highly mutation-constrained N-terminal region of &lt;i&gt;GNAO1&lt;/i&gt;; the variant was classified as “likely pathogenic” according to American College of Medical Genetics and Genomics (ACMG), establishing the diagnosis of &lt;i&gt;GNAO&lt;/i","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 11","pages":"2124-2125"},"PeriodicalIF":7.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643569","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}

{"title":"November Infographic","authors":"","doi":"10.1002/mds.29492","DOIUrl":"10.1002/mds.29492","url":null,"abstract":"<p>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 Small Particles, Big Potential: Polymeric Nanoparticles for Drug Delivery in Parkinson's Disease</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 11","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1002/mds.29492","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645948","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}

{"title":"RAB32 Variants in a German Parkinson's Disease Cohort","authors":"Carolin Gabbert MSc,&nbsp;Cholpon Shambetova MD,&nbsp;Christoph Much,&nbsp;Joanne Trinh PhD,&nbsp;Christine Klein MD","doi":"10.1002/mds.30005","DOIUrl":"10.1002/mds.30005","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 11","pages":"2121-2123"},"PeriodicalIF":7.4,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142275596","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}