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Substantiating the Short Burst Duration in Cortical Myoclonus Mov. Disord. (IF 7.4) Pub Date : 2024-09-24 Sterre van der Veen, Amber Maliepaard, Madelein van der Stouwe, Jelle Dalenberg, Inge Tuitert, Jan Willem J. Elting, Marina A.J. Tijssen
BackgroundMyoclonus is characterized by involuntary, shock‐like movements, of which cortical (CM) and non‐cortical myoclonus (NCM) are most common. Electrophysiology can help differentiate between these subtypes; however, the diagnostic value of several features is largely unknown.ObjectiveThis study aims to determine the diagnostic value of the burst duration in distinguishing CM and NCM.MethodsWe
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Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study Mov. Disord. (IF 7.4) Pub Date : 2024-09-24 Ceren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, Robin J. Palvadeau, Özgür Öztop Çakmak, Atay Vural, Andreas Traschütz, Filippo M. Santorelli, Bernard Brais, Rebecca Schüle, Matthis Synofzik, A. Nazlı Başak
BackgroundAutosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting SACS variants of unknown significance (VUS) or atypical phenotypes.ObjectivesTo detect sacsin in peripheral blood mononuclear cells (PBMCs) and to validate
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Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease. Mov. Disord. (IF 7.4) Pub Date : 2024-09-23 Guillaume Cogan,Christelle Tesson,Christine Brefel-Courbon,Aymeric Lanore,Gatepe Cedoine Kodjovi,Lisa Welment,Fabienne Clot,Suzanne Lesage,Alexis Brice
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Evaluation of Cerebrospinal Fluid α‐Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome Mov. Disord. (IF 7.4) Pub Date : 2024-09-20 David P. Vaughan, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Tatiana Georgiades, Lesley Wu, Danielle Lux, Ruth Obrocki, Jennifer Lamoureux, Olaf Ansorge, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Cornelis Blauwendraat, Huw R. Morris,
BackgroundSeed amplification assay (SAA) testing has been developed as a biomarker for the diagnosis of α‐synuclein‐related neurodegenerative disorders.ObjectiveThe objective of this study was to assess the rate of α‐synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) and to analyze clinical and pathological features of SAA‐positive and ‐negative cases.MethodsA
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RAB32 Variants in a German Parkinson's Disease Cohort Mov. Disord. (IF 7.4) Pub Date : 2024-09-19 Carolin Gabbert, Cholpon Shambetova, Christoph Much, Joanne Trinh, Christine Klein
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Unilateral Magnetic Resonance–Guided Focused Ultrasound Lesion of the Subthalamic Nucleus in Parkinson's Disease: A Prospective Study Mov. Disord. (IF 7.4) Pub Date : 2024-09-19 Laura Armengou‐Garcia, Carlos A. Sanchez‐Catasus, Iciar Aviles‐Olmos, Adolfo Jiménez‐Huete, Genoveva Montoya‐Murillo, Arantza Gorospe, Antonio Martin‐Bastida, Lain Hermes Gonzalez‐Quarante, Jorge Guridi, Maria C. Rodriguez‐Oroz
BackgroundUnilateral subthalamic nucleus (STN) ablation using magnetic resonance–guided focused ultrasound (MRgFUS) is being explored as a new treatment for asymmetric Parkinson's disease (PD).ObjectivesThe aims were to study the efficacy and safety of this treatment in asymmetric PD patients and to characterize the lesions.MethodsThis prospective, single‐center, open‐label study evaluated asymmetric
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New Insights into Freezing of Gait in Parkinson's Disease from Spectral Dynamic Causal Modeling Mov. Disord. (IF 7.4) Pub Date : 2024-09-19 Seira Taniguchi, Yuta Kajiyama, Takanori Kochiyama, Gajanan Revankar, Kotaro Ogawa, Emi Shirahata, Kana Asai, Chizu Saeki, Tatsuhiko Ozono, Yasuyoshi Kimura, Kensuke Ikenaka, Nicholas D'Cruz, Moran Gilat, Alice Nieuwboer, Hideki Mochizuki
BackgroundFreezing of gait is one of the most disturbing motor symptoms of Parkinson's disease (PD). However, the effective connectivity between key brain hubs that are associated with the pathophysiological mechanism of freezing of gait remains elusive.ObjectiveThe aim of this study was to identify effective connectivity underlying freezing of gait.MethodsThis study applied spectral dynamic causal
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A Pilot Group Cognitive Behavioral Therapy Telehealth Intervention for Functional Movement Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-09-18 Vera N. Kulikov, Dodie A. Gillett, Carine W. Maurer
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Calcitriol in Friedreich Ataxia Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Shana E. McCormack, David R. Weber, David R. Lynch
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Immediate Effect of Continuous Positive Airway Pressure Therapy on Sleep and Respiration in Patients with Multiple System Atrophy and Sleep‐Disordered Breathing Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Giulia Lazzeri, Marion Houot, Maxime Patout, Cécile Londner, Carole Philippe, Stephane Attard, Teddy Delpy, Joanna Ruggeri, Bertrand Degos, Florence Cormier, Marie Vidailhet, Jean Cristophe Corvol, Isabelle Arnulf, David Grabli, Pauline Dodet
BackgroundSleep‐disordered breathing (SDB; including stridor and sleep apnea syndromes) is frequent in multiple system atrophy (MSA), but the immediate effect of continuous positive airway pressure (CPAP) therapy is incompletely determined.ObjectiveWe sought to evaluate the acute effect and safety of CPAP therapy on SDB and sleep architecture, as well as the clinical characteristics of nonresponders
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Enhancing Clarity in Tremor Network Gene Expression Analysis Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Ting Yu, Dan Shan, Dong Chen
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What Is In A Name? Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Daniel Ciampi de Andrade, Veit Mylius, Santiago Perez Lloret
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Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Björn‐Hergen Laabs, Katja Lohmann, Eva‐Juliane Vollstedt, Tobias Reinberger, Lisa‐Marie Nuxoll, Gamze Kilic‐Berkmen, Joel S. Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B. Bressman, Kevin R. Duque, Alberto J. Espay, Andreas Ferbert, Jeanne S. Feuerstein, Samuel Frank, Thomas
BackgroundDespite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.ObjectiveThe objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia.MethodsArray‐based GWASs were performed
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Reply to: “Calcitriol in Friedreich Ataxia” Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Berta Alemany‐Perna, Jordi Tamarit, Elisa Cabiscol, Joaquim Ros
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Reply to: Enhancing Clarity in Tremor Network Gene Expression Analysis Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Thomas Welton, Gabriel Chew, Aaron Shengting Mai, Jing Han Ng, Ling Ling Chan, Eng‐King Tan
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CAG Repeat Expansion in THAP11 Is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
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Reply to: “CAG Repeat Expansion in THAP11 is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan” Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Cheng‐Tsung Hsiao, Yi‐Chu Liao, Yi‐Chung Lee
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Responsive Deep Brain Stimulation: A New Hope for Controlling Stimulation‐Induced Dysarthria in Essential Tremor Mov. Disord. (IF 7.4) Pub Date : 2024-09-17 Michael T. Barbe, Jan Rusz, Kristina Simonyan
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Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-09-11 Sophia R.L. Vieira, Roxana Mezabrovschi, Marco Toffoli, Sara Lucas Del Pozo, Elisa Menozzi, Stephen Mullin, Selen Yalkic, Naomi Limbachiya, Sofia Koletsi, Nadine Loefflad, Grisel J. Lopez, Ziv Gan‐Or, Roy N. Alcalay, Ellen Sidransky, Anthony H.V. Schapira
Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1
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Amelioration of Focal Hand Dystonia via Low‐Frequency Repetitive Somatosensory Stimulation Mov. Disord. (IF 7.4) Pub Date : 2024-09-10 Lorenzo Rocchi, Anna Latorre, Elisa Menozzi, Vittorio Rispoli, John C. Rothwell, Alfredo Berardelli, Kailash P. Bhatia
BackgroundDystonia presents a growing concern based on evolving prevalence insights. Previous research found that, in cervical dystonia, high‐frequency repetitive somatosensory stimulation (RSS; HF‐RSS) applied on digital nerves paradoxically diminishes sensorimotor inhibitory mechanisms, whereas low‐frequency RSS (LF‐RSS) increases them. However, direct testing on affected body parts was not conducted
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International Parkinson and Movement Disorder Society Viewpoint on Biological Frameworks of Parkinson's Disease: Current Status and Future Directions Mov. Disord. (IF 7.4) Pub Date : 2024-09-09 Lorraine V. Kalia, Daniela Berg, Jeffery H. Kordower, Kathleen M. Shannon, John‐Paul Taylor, Francisco Cardoso, Jennifer G. Goldman, Beomseok Jeon, Wassilos G. Meissner, Marina A.J. Tijssen, David J. Burn, Victor S.C. Fung
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Unusual Age‐Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia Mov. Disord. (IF 7.4) Pub Date : 2024-09-05 Daniela Scarabino, Liana Veneziano, Suran Nethisinghe, Elide Mantuano, Alessia Fiore, Giulia Granata, Nita Solanky, Ginevra Zanni, Francesca Cavalcanti, Rosa Maria Corbo, Paola Giunti
BackgroundFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by an expanded GAA repeat in the first intron of the FXN gene.ObjectiveThe aim of this study was to analyze leukocyte telomeres length (LTL) in FRDA to verify the possible relationships between LTL and disease progression. We investigated LTL in a cohort of FRDA biallelic patients (n = 61), heterozygous (n
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Houston, We Have AI Problem! Quality Issues with Neuroimaging-Based Artificial Intelligence in Parkinson's Disease: A Systematic Review. Mov. Disord. (IF 7.4) Pub Date : 2024-09-05 Verena Dzialas,Elena Doering,Helena Eich,Antonio P Strafella,David E Vaillancourt,Kristina Simonyan,Thilo van Eimeren,
In recent years, many neuroimaging studies have applied artificial intelligence (AI) to facilitate existing challenges in Parkinson's disease (PD) diagnosis, prognosis, and intervention. The aim of this systematic review was to provide an overview of neuroimaging-based AI studies and to assess their methodological quality. A PubMed search yielded 810 studies, of which 244 that investigated the utility
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A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification Mov. Disord. (IF 7.4) Pub Date : 2024-09-04 Xinhui Chen, Yihua Shi, Feng Fu, Lebo Wang, Hongying Yu, Dehao Yang, Xinchen Wang, Chenxin Ying, Haoyu Wang, Zhiru Lin, Haotian Wang, Fan Zhang, Xiaosheng Zheng, Yuru Guo, Yaoting Wang, YiHeng Zeng, Miao Zhao, Yiling Chen, Jiaxiang Li, Haibin Xia, Jiawen Chen, Bo Wang, Sheng Wu, Fei Xie, Jianhua Feng, Zhidong Cen, Wei Luo
BackgroundPrimary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the existence of additional novel causative genes. NAA60 was a recently reported novel causative gene for PFBC.ObjectiveThe aim was to identify the probable novel causative gene in an autosomal
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Rest Tremor in Parkinson's Disease Is Associated with Ipsilateral Striatal Dopamine Transporter Binding Mov. Disord. (IF 7.4) Pub Date : 2024-09-03 Kalle J. Niemi, Juha Sunikka, Hamid Soltanian‐Zadeh, Esmaeil Davoodi‐Bojd, Arman Rahmim, Valtteri Kaasinen, Juho Joutsa
BackgroundThe cardinal motor symptoms of Parkinson's disease (PD) include rigidity, bradykinesia, and rest tremor. Rigidity and bradykinesia correlate with contralateral nigrostriatal degeneration and striatal dopamine deficit, but association between striatal dopamine function and rest tremor has remained unclear.ObjectiveThe aim of this study was to investigate the possible link between dopamine
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IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA. Mov. Disord. (IF 7.4) Pub Date : 2024-09-03 Sunita Venkateswaran,Jean Michaud,Yoko Ito,Michael Geraghty,Evan C Lewis,Benjamin Ellezam,Kym M Boycott,David A Dyment,Kristin D Kernohan,
BACKGROUND Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurodegeneration consisting of spasticity, dystonia, and ataxia in which postmortem pathological analysis led to the diagnosis of interferon regulatory factor 2 binding protein like (IRF2BPL)-related
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Systematic Review of the Cost of Illness of Parkinson's Disease from a Societal Perspective Mov. Disord. (IF 7.4) Pub Date : 2024-09-02 Anke Wijers, Anirudhan Ravi, Silvia M.A.A. Evers, Gerrit Tissingh, Ghislaine A.P.G. van Mastrigt
Previous reviews on the cost of illness (COI) of Parkinson's disease (PD) have often focused on health‐care costs due to PD, underestimating its effects on other sectors. This systematic review determines the COI of PD from a societal perspective. The protocol was registered in PROSPERO (ID: CRD42023428937). Embase, Medline, and EconLit were searched up to October 12, 2023, for studies determining
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Unraveling Primary Familial Brain Calcification Mechanisms: Are NAA60 and SLC20A2 Partners in Crime? Mov. Disord. (IF 7.4) Pub Date : 2024-09-02 Max Brand, Ana Westenberger
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Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies Mov. Disord. (IF 7.4) Pub Date : 2024-08-30 Tamara Shiner, Gitit Kavé, Anat Mirelman, Keren Regev, Yoav Piura, Orly Goldstein, Mali Gana Weisz, Anat Bar‐Shira, Tanya Gurevich, Avi Orr‐Urtreger, Roy N. Alcalay, Nir Giladi, Noa Bregman
BackgroundGlucocerebrosidase 1 (GBA1) mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.ObjectiveTo assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.MethodsOne hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped
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Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort Mov. Disord. (IF 7.4) Pub Date : 2024-08-29 Giovanna Zorzi, Federica Zibordi, Ugo Sorrentino, Holger Prokisch, Barbara Garavaglia, Michael Zech
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Quantitative Comparisons of Progressive Supranuclear Palsy Rating Scale Versions Using Item Response Theory Mov. Disord. (IF 7.4) Pub Date : 2024-08-29 Mohamed Gewily, Elodie L. Plan, Elham Yousefi, Franz König, Martin Posch, Franziska Hopfner, Günter Höglinger, Mats O. Karlsson
BackgroundProgressive supranuclear palsy (PSP) is a neurodegenerative, late‐onset disease that is challenging in terms of assessment. The Progressive Supranuclear Palsy Rating Scale (PSPRS), a 28‐item clinician‐reported scale, is the most established clinical outcome assessment method. Recently, the U.S. Food and Drug Administration (FDA) has proposed a subscale of 10 items as an alternative to full
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Skin Tau Quantification as a Novel Biomarker in Huntington's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-08-28 Iñigo Ruiz‐Barrio, Anna Vázquez‐Oliver, Arnau Puig‐Davi, Elisa Rivas‐Asensio, Jesus Perez‐Perez, Cristina Fernandez‐Vizuete, Andrea Horta‐Barba, Gonzalo Olmedo‐Saura, Nil Salvat‐Rovira, Frederic Sampedro, Elena Vacchi, Giorgia Melli, Javier Pagonabarraga, Jaime Kulisevsky, Saul Martinez‐Horta
BackgroundEmerging research implicates tau protein dysregulation in the pathophysiology of Huntington's disease.ObjectiveThis study investigated skin tau quantification as a potential biomarker for Huntington's disease and its correlation with disease burden outcomes.MethodsIn this cross‐sectional study, we measured skin tau levels using enzyme‐linked immunosorbent assay in 23 Huntington's disease
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Metagenomic Analysis Reveals Large‐Scale Disruptions of the Gut Microbiome in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-08-28 Avril Metcalfe‐Roach, Mihai S. Cirstea, Adam C. Yu, Hena R. Ramay, Olabisi Coker, Seti Boroomand, Faezeh Kharazyan, Davide Martino, Laura K. Sycuro, Silke Appel‐Cresswell, B. Brett Finlay
BackgroundParkinson's disease (PD) has been consistently linked to alterations within the gut microbiome.ObjectiveOur goal was to identify microbial features associated with PD incidence and progression.MethodsMetagenomic sequencing was used to characterize taxonomic and functional changes to the PD microbiome and to explore their relation to bacterial metabolites and disease progression. Motor and
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Glucagon‐Like Peptide‐1 Receptor Agonists and Risk of Parkinson's Disease in Patients with Type 2 Diabetes: A Population‐Based Cohort Study Mov. Disord. (IF 7.4) Pub Date : 2024-08-27 Huilin Tang, Ying Lu, Michael S. Okun, William T. Donahoo, Adolfo Ramirez‐Zamora, Fei Wang, Yu Huang, Melissa Armstrong, Mikael Svensson, Beth A. Virnig, Steven T. DeKosky, Jiang Bian, Jingchuan Guo
BackgroundPrevious studies have suggested that glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs) may have a disease‐modifying effect in the development of Parkinson's disease (PD), but population studies yielded inconsistent results.ObjectiveThe aim was to compare the risk of PD associated with GLP‐1RAs compared to dipeptidyl peptidase 4 inhibitors (DPP4i) among older adults with type 2 diabetes
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Automated Sleep Detection in Movement Disorders Using Deep Brain Stimulation and Machine Learning Mov. Disord. (IF 7.4) Pub Date : 2024-08-23 Arjun Balachandar, Yosra Hashim, Okeanis Vaou, Alfonso Fasano
BackgroundAutomated sleep detection in movement disorders may allow monitoring sleep, potentially guiding adaptive deep brain stimulation (DBS).ObjectivesThe aims were to compare wake‐versus‐sleep status (WSS) local field potentials (LFP) in a home environment and develop biomarkers of WSS in Parkinson's disease (PD), essential tremor (ET), and Tourette's syndrome (TS) patients.MethodsFive PD, 2 ET
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Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy Mov. Disord. (IF 7.4) Pub Date : 2024-08-23 Shawna R. Cook, Cleo Schwarz, Julien Guevar, Charles‐Antoine Assenmacher, Maeve Sheehy, Nathan Fanzone, Molly E. Church, Leonardo Murgiano, Margret L. Casal, Vidhya Jagannathan, Rodrigo Gutierrez‐Quintana, Mark Lowrie, Frank Steffen, Tosso Leeb, Kari J. Ekenstedt
BackgroundNeuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has also been described to naturally occur in large animal models, such as dogs. A newly recognized disorder in Miniature American Shepherd
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Advancing Parkinson's Research: Considerations and Future Directions Mov. Disord. (IF 7.4) Pub Date : 2024-08-22 Haoyun Xiao, Liqin Lang, Zheng Ye, Jianjun Wu
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Autoimmune Neurobeachin Cerebellar Ataxia Mov. Disord. (IF 7.4) Pub Date : 2024-08-22 Eati Basal, Michael Gilligan, Connie Lesnick, Andrew McKeon
BackgroundThere are more than 30 immunoglobulin G (IgG) autoantibody biomarkers of autoimmune cerebellar ataxia reported.ObjectiveTo describe a novel IgG biomarker targeting neurobeachin, a scaffolding protein integral to synapse formation and function.MethodsClinical and laboratory‐based assessment was used for a novel diagnostic biomarker of autoimmune ataxia.ResultsA 46‐year‐old woman had ataxia
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Detrimental but Not Doomed—Glial Activation in Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-08-22 Shu‐Ying Liu, Vesna Sossi
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Advancing Parkinson's Research through Psychological Assessments of Deep Brain Stimulation Effects Mov. Disord. (IF 7.4) Pub Date : 2024-08-22 Qian Tian, Jingyun Ding
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Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia Mov. Disord. (IF 7.4) Pub Date : 2024-08-16 Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad‐Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng‐King Tan, Shen‐Yang Lim
BackgroundProgressive supranuclear palsy (PSP) is largely a sporadic disease with few reported familial cases. Genome‐wide association studies (GWAS) in sporadic PSP in Caucasian populations have identified MAPT as the most commonly associated genetic risk locus with the strongest effect size. At present there are limited data on genetic factors associated with PSP in Asian populations.ObjectivesOur
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Frequency Coding in Essential Tremor—The Olivocerebellar Orchestra Conducts Its Own Symphony Mov. Disord. (IF 7.4) Pub Date : 2024-08-16 Arjun Balachandar, Alfonso Fasano
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Social Cognition in Parkinson's Disease after Focused Ultrasound Subthalamotomy: A Controlled Study Mov. Disord. (IF 7.4) Pub Date : 2024-08-14 Pasqualina Guida, Raúl Martínez‐Fernández, Jorge U. Máñez‐Miró, Marta del Álamo, Guglielmo Foffani, Beatriz Fernández‐Rodríguez, Mariana H.G. Monje, Ignacio Obeso, José A. Obeso, Carmen Gasca‐Salas
Social cognition (SC) encompasses a set of cognitive functions that enable individuals to understand and respond appropriately to social interactions. Although focused ultrasound subthalamotomy (FUS‐STN) effectively treats Parkinson's disease (PD) clinical motor features, its impact and safety on cognitive‐behavioral interactions/interpersonal awareness are unknown. This study investigated the effects
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Alpha tACS Improves Cognition and Modulates Neurotransmission in Dementia with Lewy Bodies Mov. Disord. (IF 7.4) Pub Date : 2024-08-13 Alberto Benussi, Valentina Cantoni, Jasmine Rivolta, Nicola Zoppi, Maria Sofia Cotelli, Marta Bianchi, Maria Cotelli, Barbara Borroni
BackgroundDementia with Lewy bodies (DLB) is characterized by a marked shift of electroencephalographic (EEG) power and dominant rhythm, from the α toward the θ frequency range. Transcranial alternate current stimulation (tACS) is a non‐invasive brain stimulation technique that allows entrainment of cerebral oscillations at desired frequencies.ObjectivesOur goal is to evaluate the effects of occipital
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Is SH3GL2 p.G276V the Causal Functional Variant Underlying Parkinson's Disease Risk at this Locus? Mov. Disord. (IF 7.4) Pub Date : 2024-08-12 Alejandra Lázaro-Figueroa,Ana Jimena Hernández-Medrano,Diana Berenice Ramírez-Pineda,Andrés Navarro Cadavid,Mary Makarious,Jia Nee Foo,Chelsea X Alvarado,Sara Bandres-Ciga,Maria Teresa Periñan,
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Proteomic Profiling in Dystonia: The Next Frontier for Pathophysiology Research and Biomarker Exploration Mov. Disord. (IF 7.4) Pub Date : 2024-08-12 Holger Prokisch, Michael Zech
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Transcranial Temporal Interference Stimulation of the Right Globus Pallidus in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-08-12 Chenhao Yang, Yongxin Xu, Xiaofan Feng, Bowen Wang, Yichao Du, Kexin Wang, Jiaojiao Lü, Lingyan Huang, Zhenyu Qian, Zhen Wang, Nan Chen, Junhong Zhou, Chencheng Zhang, Yu Liu
BackgroundInvasive deep brain stimulation (DBS) has been shown to be effective in treating patients with Parkinson's disease (PD), yet its clinical use is limited to patients at the advanced stage of the disease. Transcranial temporal interference stimulation (tTIS) may be a novel nonneurosurgical and safer alternative, yet its therapeutic potential remains unexplored.ObjectiveThis pilot study aims
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Computerized Cognitive Training Increases Gray Matter Volumes in Huntington's Disease: A Pilot Study Mov. Disord. (IF 7.4) Pub Date : 2024-08-09 Katharine Huynh, Nellie Georgiou‐Karistianis, Amit Lampit, M. Navyaan Siddiqui, Julie C. Stout, Sharna D. Jamadar
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Probabilistic Refinement of Focused Ultrasound Thalamotomy Targeting for Parkinson's Disease Tremor Mov. Disord. (IF 7.4) Pub Date : 2024-08-09 Cletus Cheyuo, Jürgen Germann, Kazuaki Yamamoto, Zion Zibly, Vibhor Krishna, Can Sarica, Yuri Ferreira Felloni Borges, Artur Vetkas, Suneil K. Kalia, Mojgan Hodaie, Alfonso Fasano, Michael L. Schwartz, W. Jeffrey Elias, Andres M. Lozano
BackgroundThere remains high variability in clinical outcomes when the same magnetic resonance image‐guided focused ultrasound (MRgFUS) thalamotomy target is used for both essential tremor (ET) and tremor‐dominant Parkinson's disease (TDPD).ObjectiveOur goal is to refine the MRgFUS thalamotomy target for TDPD versus ET.MethodsWe retrospectively performed voxel‐wise efficacy and structural connectivity
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Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders Mov. Disord. (IF 7.4) Pub Date : 2024-08-09 Blas Couto, Serena Galosi, Dora Steel, Manju A. Kurian, Jennifer Friedman, Carolina Gorodetsky, Anthony E. Lang
Acute presentation of severe motor disorders is a diagnostic and management challenge. We define severe acute motor exacerbations (SAME) as acute/subacute motor symptoms that persist for hours‐to‐days with a severity that compromise vital signs (temperature, breath, and heart rate) and bulbar function (swallowing/dysphagia). Phenomenology includes dystonia, choreoathetosis, combined movement disorders
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Functional Movement Disorder as a Prodromal Symptom of Parkinson's Disease—Clinical and Pathophysiological Insights Mov. Disord. (IF 7.4) Pub Date : 2024-08-09 Elie Matar, Michele Tinazzi, Mark J. Edwards, Kailash P. Bhatia
Functional movement disorder (FMD) is a common manifestation of functional neurological disorder. FMD can occur alongside other neurological conditions, but especially in patients with established Parkinson's disease (PD). An interesting observation emerging across cohort studies and case series is that FMD can precede the diagnosis of PD, suggesting that FMD may itself be a prodromal symptom of neurodegeneration
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Frequency‐Selective Suppression of Essential Tremor via Transcutaneous Spinal Cord Stimulation Mov. Disord. (IF 7.4) Pub Date : 2024-08-08 Alejandro Pascual‐Valdunciel, Jaime Ibáñez, Lorenzo Rocchi, Joy Song, John C. Rothwell, Kailash P. Bhatia, Dario Farina, Anna Latorre
BackgroundEssential tremor (ET) is a common debilitating condition, yet current treatments often fail to provide satisfactory relief. Transcutaneous spinal cord electrical stimulation (tSCS) has emerged as a potential noninvasive neuromodulation technique capable of disrupting the oscillatory activity underlying tremors.ObjectiveThis study aimed to investigate the potential of tSCS to disrupt tremor
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Time to Functional Loss as an Endpoint in Huntington's Disease Trials: Enrichment and Sample Size Mov. Disord. (IF 7.4) Pub Date : 2024-08-05 James A. Mills, Jeffrey D. Long, Jatin G. Vaidya, Emily C. Gantman, Swati Sathe, Sarah J. Tabrizi, Cristina Sampaio
BackgroundClinical trial scenarios can be modeled using data from observational studies, providing critical information for design of real‐world trials. The Huntington's Disease Integrated Staging System (HD‐ISS) characterizes disease progression over an individual's lifespan and allows for flexibility in the design of trials with the goal of delaying progression. Enrichment methods can be applied