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Randomized Phase I Trial of the α-Synuclein Antibody Lu AF82422 Mov. Disord. (IF 8.6) Pub Date : 2024-03-17 Louise Buur, Jonas Wiedemann, Frank Larsen, Fayrouz Ben Alaya-Fourati, Pekka Kallunki, Dorte Kornerup Ditlevsen, Mette Høgh Sørensen, Didier Meulien
Immunotherapy targeting pathological α-synuclein (α-syn) species is a promising strategy for slowing disease progression in neurodegenerative synucleinopathies, including Parkinson's disease (PD).
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Contribution of MRI for the Early Diagnosis of Parkinsonism in Patients with Diagnostic Uncertainty Mov. Disord. (IF 8.6) Pub Date : 2024-03-16 Lydia Chougar, Alice Faucher, Johann Faouzi, François‐Xavier Lejeune, Gonçalo Gama Lobo, Carna Jovanovic, Florence Cormier, Gwendoline Dupont, Marie Vidailhet, Jean‐Christophe Corvol, Olivier Colliot, Stéphane Lehéricy, David Grabli, Bertrand Degos
BackgroundInternational clinical criteria are the reference for the diagnosis of degenerative parkinsonism in clinical research, but they may lack sensitivity and specificity in the early stages.ObjectivesTo determine whether magnetic resonance imaging (MRI) analysis, through visual reading or machine‐learning approaches, improves diagnostic accuracy compared with clinical diagnosis at an early stage
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A New Definition of Psychosis Is Needed in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Joseph H. Friedman
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Short‐Term Cannabidiol with Δ‐9‐Tetrahydrocannabinol in Parkinson's Disease: A Randomized Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Ying Liu, Jacquelyn Bainbridge, Stefan Sillau, Sarah Rajkovic, Michelle Adkins, Christopher H. Domen, John A. Thompson, Tristan Seawalt, Jost Klawitter, Cristina Sempio, Grace Chin, Lisa Forman, Michelle Fullard, Trevor Hawkins, Lauren Seeberger, Heike Newman, David Vu, Maureen Anne Leehey
BackgroundCannabis use is frequent in Parkinson's disease (PD), despite inadequate evidence of benefits and risks.ObjectiveThe aim is to study short‐term efficacy and tolerability of relatively high cannabidiol (CBD)/low Δ‐9‐tetrahydrocannabinol (THC) to provide preliminary data for a longer trial.MethodsPersons with PD with ≥20 on motor Movement Disorder Society Unified Parkinson's Disease Rating
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On‐Demand Cueing for Freezing of Gait in Parkinson's Disease: A Randomized Controlled Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Demi Zoetewei, Talia Herman, Pieter Ginis, Luca Palmerini, Marina Brozgol, Pablo Cornejo Thumm, Alberto Ferrari, Eva Ceulemans, Eva Decaluwé, Jeffrey M. Hausdorff, Alice Nieuwboer
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Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) Mov. Disord. (IF 8.6) Pub Date : 2024-03-14 Kathy Dujardin, Céline Tard, Emily Diglé, Virginie Herlin, Eugénie Mutez, Jean‐Baptiste Davion, Anna Wissocq, Violette Delforge, Gregory Kuchcinski, Vincent Huin
BackgroundLittle is known about the impact of the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition.ObjectiveOur objective was to determine the frequency and severity of cognitive impairment in RFC1‐positive patients and describe the pattern of deficits.MethodsParticipants underwent a comprehensive neuropsychological assessment. Volume of the cerebellum and its lobules
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Longitudinal Free-Water Changes in Dementia with Lewy Bodies Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Shannon Y. Chiu, Robin Chen, Wei-en Wang, Melissa J. Armstrong, Bradley F. Boeve, Rodolfo Savica, Vijay Ramanan, Julie A. Fields, Neill Graff-Radford, Tanis J. Ferman, Kejal Kantarci, David E. Vaillancourt
Diffusion-weighted magnetic resonance imaging (dMRI) examines tissue microstructure integrity in vivo. Prior dementia with Lewy bodies (DLB) diffusion tensor imaging studies yielded mixed results.
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Striatal and Extrastriatal Monoaminergic Disruption in Progressive Supranuclear Palsy Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Jing‐Hong Ma, Chong Dong, Hong‐Wen Qiao, Olivier Barret, Gilles D. Tamagnan, Wei Mao, Er‐He Xu, Chun Zhang, Jie Lu, Piu Chan, Shu‐Ying Liu
BackgroundAs a biomarker targeting vesicular monoamine transporter 2 (VMAT2), 18F‐9‐fluoropropyldihydrotetrabenazine (18F‐FP‐DTBZ) positron emission tomography (PET) is highly accurate in diagnosing Parkinson's disease (PD) and assessing its severity. However, evidence is insufficient in patients with progressive supranuclear palsy (PSP).ObjectiveWe evaluated the striatal and extrastriatal monoaminergic
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Microglial Activation and Progression of Nigrostriatal Dysfunction in Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Kristian Stær, Alex Iranzo, Morten Gersel Stokholm, Victor S. Hvingelby, Erik Hvid Danielsen, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina B. Svendsen, Alicia Garrido, Dolores Vilas, Joan Santamaria, Arne Møller, Carles Gaig, David J. Brooks, Per Borghammer, Eduardo Tolosa, Nicola Pavese
BackgroundUsing 11C‐(R)‐PK11195‐PET, we found increased microglia activation in isolated REM sleep behavior disorder (iRBD) patients. Their role remains to be clarified.ObjectivesThe objective is to assess relationships between activated microglia and progression of nigrostriatal dysfunction in iRBD.MethodsFifteen iRBD patients previously scanned with 11C‐(R)‐PK11195 and 18F‐DOPA‐PET underwent repeat
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Trans‐Spinal Theta Burst Magnetic Stimulation in Parkinson's Disease and Gait Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Janaína Reis Menezes, Glaucia Aline Nunes, Rafael Bernhart Carra, Juliana da Silva Simões, Davi Jorge Fontoura Solla, Jussan Rodrigues Oliveira, Manoel Jacobsen Teixeira, Marco Antônio Marcolin, Egberto Reis Barbosa, Clarice Tanaka, Daniel Ciampi de Andrade, Rubens Gisbert Cury
BackgroundGait disorders in patients with Parkinson's disease (PD) can become disabling with disease progression without effective treatment.ObjectivesTo investigate the efficacy of intermittent θ burst trans‐spinal magnetic stimulation (TsMS) in PD patients with gait and balance disorders.MethodsThis was a randomized, parallel, double‐blind, controlled trial. Active or sham TsMS was applied at third
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Effects of GPi DBS on Sensorimotor Integration in Dystonia: A Pilot ON/OFF Study Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Ana Paula Arantes, Nicole A. Zalasky, Ludymila Ribeiro Borges, Rachel E. Sondergaard, Davide Martino, Zelma H.T. Kiss
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Globus Pallidus Internus (GPi) Neuromodulation is Not Effective in Unverricht–Lundborg Disease to Control Myoclonia Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Gaëtan Poulen, Philippe Gélisse, Emilie Chan‐Seng, Pierre‐Olivier Moser, Pierre Genton, Arielle Crespel, Philippe Coubes
Unverricht–Lundborg disease (ULD), the most common and purest form of progressive myoclonus epilepsy (PME), follows an autosomal recessive transmission pattern, with onset typically between 8 and 13 years.1 Clinical outcomes can vary widely, ranging from minimal impairment to severe motor disability, including cases of bedridden patients.2 Bilateral globus pallidus internus (GPi) deep brain stimulation
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Abnormalities of the Descending Inhibitory Nociceptive Pathway in Functional Motor Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Giovanna Squintani, Christian Geroin, Alessia Pasquali, Eleonora Cavazzana, Alessia Segatti, Marianna Lippolis, Chiara Bonetto, Elena Antelmi, Michele Tinazzi
BackgroundPain is a common disabling non‐motor symptom affecting patients with functional motor disorders (FMD).ObjectiveWe aimed to explore ascending and descending nociceptive pathways with laser evoked potentials (LEPs) in FMD.MethodsWe studied a “bottom‐up and top‐down” noxious paradigm applying a conditioned pain modulation (CPM) protocol and recorded N2/P2 amplitude in 21 FMD and 20 controls
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Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Hannah L. Casey, Vrutangkumar V. Shah, Daniel Muzyka, James McNames, Mahmoud El‐Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson‐Kuhta, Jeremy D. Schmahmann, Liana S. Rosenthal, Susan Perlman, Christian Rummey, Fay B. Horak, Christopher M. Gomez
BackgroundProgressive loss of standing balance is a feature of Friedreich's ataxia (FRDA).ObjectivesThis study aimed to identify standing balance conditions and digital postural sway measures that best discriminate between FRDA and healthy controls (HC). We assessed test–retest reliability and correlations between sway measures and clinical scores.MethodsTwenty‐eight subjects with FRDA and 20 HC completed
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The Motor Dysfunction Seen in Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Cristina Simonet, Laura Pérez‐Carbonell, Miquel A. Galmés‐Ordinas, Brook F.R. Huxford, Harneek Chohan, Aneet Gill, Guy Leschziner, Andrew J. Lees, Anette Schrag, Alastair J. Noyce
BackgroundIsolated Rapid Eye Movement (REM) sleep Behavior Disorder (iRBD) requires quantitative tools to detect incipient Parkinson's disease (PD).MethodsA motor battery was designed and compared with the Movement Disorder Society‐Unified Parkinson's Disease Rating Scale part III (MDS‐UPDRS‐III) in people with iRBD and controls. This included two keyboard‐based tests (BRadykinesia Akinesia INcoordination
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ANO10‐Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Andona Milovanović, Ana Westenberger, Iva Stanković, Olivera Tamaš, Marija Branković, Ana Marjanović, Björn‐Hergen Laabs, Max Brand, Rajasumi Rajalingam, Connie Marras, Katja Lohmann, Vesna Branković, Ivana Novaković, Igor Petrović, Marina Svetel, Christine Klein, Vladimir S. Kostić, Natasa Dragašević‐Mišković
BackgroundBiallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX‐ANO10).MethodsFollowing the MDSGene protocol, we systematically investigated genotype–phenotype relationships in ATX‐ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.ResultsMost patients (>80%) had loss‐of‐function (LOF) variants. The most common
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Direct Current Stimulation of Prefrontal Cortex Is Not Effective in Progressive Supranuclear Palsy: A Randomized Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Arianna Cappiello, Filomena Abate, Sarah Adamo, Maria Francesca Tepedino, Leandro Donisi, Carlo Ricciardi, Anna Rosa Avallone, Miriam Caterino, Sofia Cuoco, Maria Teresa Pellecchia, Marianna Amboni, Paolo Barone, Roberto Erro, Marina Picillo
BackgroundProgressive supranuclear palsy (PSP) is a rare 4R‐tauopathy. Transcranial direct current stimulation (tDCS) may improve specific symptoms.ObjectivesThis randomized, double‐blinded, sham‐controlled trial aimed at verifying the short‐, mid‐, and long‐term effect of multiple sessions of anodal tDCS over the left dorsolateral prefrontal cortex (DLPFC) cortex in PSP.MethodsTwenty‐five patients
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Optimizing Screening for Intrastriatal Interventions in Huntington's Disease Using Predictive Models Mov. Disord. (IF 8.6) Pub Date : 2024-03-11 Matthew J. Barrett, Ahmed Negida, Nitai Mukhopadhyay, Jin K. Kim, Huma Nawaz, Jefin Jose, Claudia Testa
BackgroundIntrastriatal delivery of potential therapeutics in Huntington's disease (HD) requires sufficient caudate and putamen volumes. Currently, volumetric magnetic resonance imaging is rarely done in clinical practice, and these data are not available in large research cohorts such as Enroll‐HD.ObjectiveThe objective of this study was to investigate whether predictive models can accurately classify
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The Phenotypic and Genotypic Spectrum of CSF1R‐Related Disorder in China Mov. Disord. (IF 8.6) Pub Date : 2024-03-11 Jingying Wu, Xin Cheng, Duxin Ji, Huiwen Niu, Songquan Yao, Xukun Lv, Jianqiang Wang, Ziyi Li, Haoran Zheng, Yuwen Cao, Feixia Zhan, Mengyuan Zhang, Wotu Tian, Xiaojun Huang, Xinghua Luan, Li Cao
BackgroundColony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated.ObjectiveThe objective of the study is to clarify the core features and influence factors of CRD patients in China.MethodsClinical and genetic‐related data of CRD patients in China were collected. Mini‐Mental
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Cortical Macro‐ and Microstructural Changes in Parkinson's Disease with Probable Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-08 Jèssica Pardo, Victor Montal, Anna Campabadal, Javier Oltra, Carme Uribe, Ignacio Roura, Núria Bargalló, Maria J. Martí, Yaroslau Compta, Alex Iranzo, Juan Fortea, Carme Junqué, Bàrbara Segura
BackgroundEvidence regarding cortical atrophy patterns in Parkinson's disease (PD) with probable rapid eye movement sleep behavior disorder (RBD) (PD‐pRBD) remains scarce. Cortical mean diffusivity (cMD), as a novel imaging biomarker highly sensitive to detecting cortical microstructural changes in different neurodegenerative diseases, has not been investigated in PD‐pRBD yet.ObjectivesThe aim was
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Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia Mov. Disord. (IF 8.6) Pub Date : 2024-03-04 Thomas Wirth, Emmanuel Roze, Clarisse Delvallée, Oriane Trouillard, Nathalie Drouot, Philippe Damier, Clotilde Boulay, Marine Bourgninaud, Prasanthi Jegatheesan, Aude Sangare, Sylvie Forlani, Bertrand Gaymard, Remi Hervochon, Vincent Navarro, Nadège Calmels, Audrey Schalk, Christine Tranchant, Amélie Piton, Aurélie Méneret, Mathieu Anheim
BackgroundAlthough the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.ObjectiveThe aim is to identify the missing genetic causes of PKD.MethodsPhenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.ResultsWe identified four causative variants in KCNJ10, already associated
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Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase Mov. Disord. (IF 8.6) Pub Date : 2024-03-04 Micol Avenali, Silvia Cerri, Ilaria Palmieri, Gerardo Ongari, Rita Stiuso, Gabriele Buongarzone, Cristina Tassorelli, Tommaso Biagini, Marialuisa Valente, Cristina Cereda, Tommaso Mazza, Simone Gana, Claudio Pacchetti, Enza Maria Valente
BackgroundSNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival.ObjectivesTo clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD).MethodsGenetic diagnosis was reached through next‐generation sequencing.
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Bidirectional Interplay between Deep Brain Stimulation and Cognition in Parkinson's Disease: A Systematic Review Mov. Disord. (IF 8.6) Pub Date : 2024-03-02 Vibuthi Sisodia, Arjan Malekzadeh, Esmée Verwijk, P. Richard Schuurman, Rob M.A. de Bie, Bart E.K.S. Swinnen
BackgroundDeep brain stimulation (DBS) is efficacious for treating motor symptoms in Parkinson's disease (PD).ObjectivesThe aim is to evaluate the evidence regarding DBS effectiveness after postoperative cognitive deterioration, the impact of preoperative cognition on DBS effectiveness, and the impact of DBS on cognition.MethodsLiterature searches were performed on MEDLINE, EMBASE, and CENTRAL (Cochrane
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Care of Late‐Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries Mov. Disord. (IF 8.6) Pub Date : 2024-03-01 Christopher Kruse, Anna Lipinski, Malte Verheyen, Monika Balzer‐Geldsetzer, Michael Wittenberg, Stefan Lorenzl, Carmen Richinger, Christian Schmotz, Lars Tönges, Dirk Woitalla, Stephan Klebe, Bastiaan R. Bloem, Adrianus Hommel, Wassilios G. Meissner, Brice Laurens, Thomas Boraud, Alexandra Foubert‐Samier, Sylvain Vergnet, François Tison, Nadège Costa, Per Odin, Kristina Rosqvist, Jenny M. Norlin, Frida
BackgroundParkinson's disease (PD) is a neurodegenerative disease that leads to progressive disability. Cost studies have mainly explored the early stages of the disease, whereas late‐stage patients are underrepresented.ObjectiveThe aim is to evaluate the resource utilization and costs of PD management in people with late‐stage disease.MethodsThe Care of Late‐Stage Parkinsonism (CLaSP) study collected
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A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity? Mov. Disord. (IF 8.6) Pub Date : 2024-02-29 Mariana H.G. Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci
Pathogenic variants in several genes encoding proteins associated with G-coupled protein receptors (GCPR), which are involved in the modulation of post-synaptic signalling and cyclic adenosine 3′,5′-monophosphate (cAMP) metabolism in striatal neurons, have been linked to hyperkinetic movement disorders, such as dystonia and chorea.1 GNAO1, encoding the G protein alpha subunit o (Gαo), is one of the
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Digital Gait Measures Capture 1‐Year Progression in Early‐Stage Spinocerebellar Ataxia Type 2 Mov. Disord. (IF 8.6) Pub Date : 2024-02-29 Jens Seemann, Lina Daghsen, Matthieu Cazier, Jean‐Charles Lamy, Marie‐Laure Welter, Martin A. Giese, Matthis Synofzik, Alexandra Durr, Winfried Ilg, Giulia Coarelli
BackgroundWith disease‐modifying drugs in reach for cerebellar ataxias, fine‐grained digital health measures are highly warranted to complement clinical and patient‐reported outcome measures in upcoming treatment trials and treatment monitoring. These measures need to demonstrate sensitivity to capture change, in particular in the early stages of the disease.ObjectiveOur aim is to unravel gait measures
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Reply to: “Focused Ultrasound Thalamotomy in Dystonic Tremor—Favourable Outcomes with VIM Lesioning Alone” Mov. Disord. (IF 8.6) Pub Date : 2024-02-28 James Peters, Joel Maamary, Kain Kyle, Nick Olsen, Lyndsey Jones, Sam Bolitho, Yael Barnett, Benjamin Jonker, Stephen Tisch
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Persistence of Basal Ganglia Oscillatory Activity During Tremor Attenuation by Movement in Parkinson's Disease Patients Mov. Disord. (IF 8.6) Pub Date : 2024-02-28 Miguel Wilken, Daniela S. Andres, Gianfranco Bianchi, Mark Hallett, Marcelo Merello
BackgroundOne of the characteristics of parkinsonian tremor is that its amplitude decreases with movement. Current models suggest an interaction between basal ganglia (BG) and cerebello‐thalamo‐cortical circuits in parkinsonian tremor pathophysiology.ObjectiveWe aimed to correlate central oscillation in the BG with electromyographic activity during re‐emergent tremor in order to detect changes in BG
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Which Focused Ultrasound Thalamotomy Lesion Is Optimal for Dystonic Tremor? Mov. Disord. (IF 8.6) Pub Date : 2024-02-28 Mickael Aubignat
I have read with interest the article “Outcomes of Focused Ultrasound Thalamotomy in Tremor Syndromes” by Peters et al. published in Movement Disorders in November 2023.1 The study evaluates the effects of unilateral thalamotomies of the ventral intermedius nucleus (VIM) in different types of tremors. Of particular interest is the authors' approach of implementing additional lesions in the posterior
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GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians Mov. Disord. (IF 8.6) Pub Date : 2024-02-23 Oluwadamilola Omolara Ojo, Sara Bandres-Ciga, Mary B. Makarious, Peter Wild Crea, Dena G. Hernandez, Henry Houlden, Mie Rizig, Andrew B. Singleton, Alastair J. Noyce, Mike A. Nalls, Cornelis Blauwendraat, Njideka Ulunma Okubadejo
Rapid eye movement (REM) sleep behavior disorder (RBD) is an early feature of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Damaging coding variants in Glucocerebrosidase (GBA1) are a genetic risk factor for RBD. Recently, a population-specific non-coding risk variant (rs3115534) was found to be associated with PD risk and earlier onset in individuals of African ancestry.
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Blocking the Self‐Destruct Program of Dopamine Neurons through Macrophage Migration Inhibitory Factor Nuclease Inhibition Mov. Disord. (IF 8.6) Pub Date : 2024-02-24 Jaimin Patel, Valina L. Dawson, Ted M. Dawson
Parkinson's disease (PD) is a progressive neurodegenerative condition that pathognomonically involves the death of dopaminergic neurons in the substantia nigra pars compacta, resulting in a myriad of motor and non‐motor symptoms. Given the insurmountable burden of this disease on the population and healthcare system, significant efforts have been put forth toward generating disease modifying therapies
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Interleaved Propofol‐Ketamine Maintains DBS Physiology and Hemodynamic Stability: A Double‐Blind Randomized Controlled Trial Mov. Disord. (IF 8.6) Pub Date : 2024-02-24 Evgeniya Kornilov, Halen Baker Erdman, Eilat Kahana, Shlomo Fireman, Omer Zarchi, Michal Israelashvili, Johnathan Reiner, Amir Glik, Penina Weiss, Rony Paz, Hagai Bergman, Idit Tamir
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Dry‐Cleaning Chemicals and a Cluster of Parkinson's Disease and Cancer: A Retrospective Investigation Mov. Disord. (IF 8.6) Pub Date : 2024-02-23 E. Ray Dorsey, Dan Kinel, Meghan E. Pawlik, Maryam Zafar, Samantha E. Lettenberger, Madeleine Coffey, Peggy Auinger, Kevin L. Hylton, Carol W. Shaw, Jamie L. Adams, Richard Barbano, Melanie K. Braun, Heidi B. Schwarz, B. Paige Lawrence, Karl Kieburtz, Caroline M. Tanner, Briana R. de Miranda, Samuel M. Goldman
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Negative Myoclonus: Neurophysiological Study and Clinical Impact in Progressive Myoclonus Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-02-22 Luca Pollini, Sterre van der Veen, Jan Willem J. Elting, Marina A.J. Tijssen
IntroductionNegative myoclonus (NM) is an involuntary movement caused by a sudden interruption of muscular activity, resulting in gait problems and falls.ObjectiveTo establish frequency, clinical impact, and neurophysiology of NM in progressive myoclonus ataxia (PMA) patients.MethodsClinical, neurophysiological, and genetic data of 14 PMA individuals from University Medical Centre Groningen (UMCG)
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Plasma Neurofilaments: Potential Biomarkers of SPG11‐Related Hereditary Spastic Paraplegia Mov. Disord. (IF 8.6) Pub Date : 2024-02-21 Laura Krumm, Jürgen Winkler, Beate Winner, Martin Regensburger
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Childhood‐Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report Mov. Disord. (IF 8.6) Pub Date : 2024-02-21 Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B. Moloney, Isabel Colangelo, Federica Graziola, Barbara Garavaglia, Giovanna Zorzi, Niccolò E. Mencacci, Steven J. Lubbe
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Mapping Subcortico‐Cortical Coupling—A Comparison of Thalamic and Subthalamic Oscillations Mov. Disord. (IF 8.6) Pub Date : 2024-02-21 Alexandra Steina, Sarah Sure, Markus Butz, Jan Vesper, Alfons Schnitzler, Jan Hirschmann
BackgroundThe ventral intermediate nucleus of the thalamus (VIM) is an effective target for deep brain stimulation in tremor patients. Despite its therapeutic importance, its oscillatory coupling to cortical areas has rarely been investigated in humans.ObjectivesThe objective of this study was to identify the cortical areas coupled to the VIM in patients with essential tremor.MethodsWe combined resting‐state
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Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-02-15 Nikolaos Papagiannakis, Hui Liu, Christos Koros, Athina-Maria Simitsi, Maria Stamelou, Matina Maniati, Elena Buena-Atienza, Chrysoula Kartanou, Georgia Karadima, Periklis Makrythanasis, Giannis Vatsellas, Enza Maria Valente, Thomas Gasser, Leonidas Stefanis
Pathogenic variants in parkin (PRKN gene) are the second most prevalent known monogenic cause of Parkinson's disease (PD). How monoallelic or biallelic pathogenic variants in the PRKN gene may affect its transcription in patient-derived biological material has not been systematically studied.
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Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation Mov. Disord. (IF 8.6) Pub Date : 2024-02-15 Benoît Vovard, Alexia Bodin, Julien Gouju, Adrien de Guilhem de Lataillade, Pascal Derkinderen, Frédérique Etcharry-Bouyx, Valérie Chauviré, Virginie Guillet-Pichon, Christophe Verny, Franck Letournel, Guy Lenaers, Arnaud Chevrollier, Philippe Codron
The architecture and composition of glial (GCI) and neuronal (NCI) α-synuclein inclusions observed in multiple system atrophy (MSA) remain to be precisely defined to better understand the disease.
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A Randomized Phase 2 KINETIC Trial Evaluating SAGE-324/BIIB124 in Individuals with Essential Tremor Mov. Disord. (IF 8.6) Pub Date : 2024-02-15 Rodger J. Elble, William G. Ondo, Kelly E. Lyons, Min Qin, Svetlana Garafola, Bonnie Hersh, TinaMarie Lieu, Dimitrios Arkilo, Rosalind Chuang, Kemi Bankole, Rajesh Pahwa
SAGE-324/BIIB124 is an investigational positive allosteric modulator of GABAA receptors.
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Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-02-15 Vrutangkumar V. Shah, Daniel Muzyka, Adam Jagodinsky, James McNames, Hannah Casey, Mahmoud El-Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson-Kuhta, Jeremy D. Schmahmann, Liana S. Rosenthal, Susan Perlman, Fay B. Horak, Christopher M. Gomez
Maintaining balance is crucial for independence and quality of life. Loss of balance is a hallmark of spinocerebellar ataxia (SCA).
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GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism Mov. Disord. (IF 8.6) Pub Date : 2024-02-15 Gonzalo P. Solis, Yonika A. Larasati, Moritz Thiel, Alexey Koval, Anne Koy, Vladimir L. Katanaev
Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum ranging from severe early-onset epileptic encephalopathy and developmental delay to mild adolescent/adult-onset dystonia. Genotype–phenotype correlation and molecular mechanisms underlying the disease remain understudied.
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Association between Subjective Cognitive Complaints and Incident Functional Impairment in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-02-06 Daniel Weintraub, Connie Marras, Amy Amara, Karen E. Anderson, Lana M. Chahine, Shirley Eberly, Abhishek Hosamath, Daniel Kinel, Sneha Mantri, Soania Mathur, David Oakes, Jennifer L. Purks, David G. Standaert, Ira Shoulson, Lakshmi Arbatti
Early identification of subjective cognitive complaints (SCC) in Parkinson's disease (PD) may improve patient care if it predicts cognition-related functional impairment (CFI).
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Coupled Activation of the Hyperdirect and Cerebellothalamic Pathways with Zona Incerta Deep Brain Stimulation Mov. Disord. (IF 8.6) Pub Date : 2024-02-06 Clayton S. Bingham, Cameron C. McIntyre
Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or ventral intermediate nucleus (VIM) are established targets for the treatment of Parkinson's disease (PD) or essential tremor (ET), respectively. However, DBS of the zona incerta (ZI) can be effective for both disorders. VIM DBS is assumed to achieve its therapeutic effect via activation of the cerebellothalamic (CBT) pathway, whereas
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Buspirone and Zolmitriptan Combination for Dyskinesia: A Randomized, Controlled, Crossover Study Mov. Disord. (IF 8.6) Pub Date : 2024-02-05 Peter A. LeWitt, Glenn T. Stebbins, Kenneth Vielsted Christensen, Riswanto Tan, Anél Pretorius, Mikael Thomsen
Preclinical evidence suggests that co-administration of the 5-HT1A agonist buspirone and the 5-HT1B/1D agonist zolmitriptan act synergistically to reduce dyskinesia to a greater extent than that achieved by either drug alone.
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An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm Mov. Disord. (IF 8.6) Pub Date : 2024-02-03 Gamze Kilic-Berkmen, Hodam Kim, Dongdong Chen, Cameron I. Yeo, Ashok R. Dinasarapu, Laura M. Scorr, Woon-Hong Yeo, David A. Peterson, Hilde Williams, April Ruby, Roger Mills, H. A. Jinnah
Blepharospasm is treated with botulinum toxin, but obtaining satisfactory results is sometimes challenging.
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Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals Mov. Disord. (IF 8.6) Pub Date : 2024-02-05 Meagan L. Collins Hutchinson, Judith St-Onge, Sabrina Schlienger, Nassima Boudrahem-Addour, Lina Mougharbel, Jean-Francois Michaud, Clara Lloyd, Elena Bruneau, Cedric Roux, Ahmed N. Sahly, Bradley Osterman, Kenneth A. Myers, Guy A. Rouleau, Daniel Alexander Jimenez Cruz, Jean-Baptiste Rivière, Andrea Accogli, Frederic Charron, Myriam Srour
Congenital mirror movements (CMM) is a rare neurodevelopmental disorder characterized by involuntary movements from one side of the body that mirror voluntary movements on the opposite side. To date, five genes have been associated with CMM, namely DCC, RAD51, NTN1, ARHGEF7, and DNAL4.
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Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia Mov. Disord. (IF 8.6) Pub Date : 2024-01-31 Yuwen Cao, Haoran Zheng, Zeyu Zhu, Li Yao, Wotu Tian, Li Cao
Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully defined.
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Genetic Modifiers of LRRK2 Parkinson's Disease: A Replication Study in Arab-Berbers Mov. Disord. (IF 8.6) Pub Date : 2024-01-31 Jordan Follett, Dylan Guenther, Leyna Xoi, Rim Amouri, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer
Most recently, Lai and colleagues assembled array data from 776 LRRK2 p.G2019S heterozygous patients with Parkinson's disease (PD) to nominate genetic loci that modify the penetrance and age-at-onset (AAO).1 This multicenter genome-wide association study (GWAS) revealed 12 loci (13 single nucleotide polymorphisms [SNPs]) with suggestive effects (variants with P values <1.0E-6) for either penetrance
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Unveiling Assessment Gaps in Parkinson's Disease Psychosis: A Scoping Review Mov. Disord. (IF 8.6) Pub Date : 2024-01-30 Graziella Mangone, Michelle H.S. Tosin, Christopher G. Goetz, Glenn T. Stebbins, Tiago A. Mestre
Parkinson's disease psychosis (PDP) is a multidimensional construct that is challenging to measure. Accurate assessment of PDP requires comprehensive and reliable clinical outcome assessment (COA) measures.
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A Double-Blind, Randomized, Placebo-Controlled Trial of Bumetanide in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-01-30 Philippe Damier, Bertrand Degos, Giovanni Castelonovo, Mathieu Anheim, Isabelle Benatru, Nicolas Carrière, Olivier Colin, Luc Defebvre, Marie Deverdal, Alexandre Eusebio, Vanessa Ferrier, Caroline Giordana, Jean-Luc Houeto, Severine Le Dily, Marie Mongin, Claire Thiriez, Christine Tranchant, Denis Ravel, Jean-Christophe Corvol, Olivier Rascol, Yehezkel Ben Ari
Acting on the main target of dopaminergic cells, the striatal γ-aminobutyric acid (GABA)-ergic cells, might be a new way to treat persons with Parkinson's disease (PD).
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Placebo and Nocebo Responses in Pharmacological Trials of Tic Disorders: A Meta-Analysis Mov. Disord. (IF 8.6) Pub Date : 2024-01-21 Simeng Wang, Zhiyi Xiong, Yuehua Cui, Fei Fan, Si Zhang, Ru Jia, Yuchen Hu, Liang Li, Xuan Zhang, Fei Han
Clinical trials of new drugs for tic disorders (TD) often fail to yield positive results. Placebo and nocebo responses play a vital role in interpreting the outcomes of randomized controlled trials (RCTs), yet these responses in RCTs of TD remain unexplored.
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Fatigue in Parkinson's Disease: A Proteomic Study of Cerebrospinal Fluid Mov. Disord. (IF 8.6) Pub Date : 2024-01-20 Live Egeland Eidem, Even Birkeland, Marie Austdal, Kjetil Bårdsen, Johannes Lange, Guido Alves, Frode Berven, Mari Mæland Nilsen, Karen Herlofson, Ole-Bjørn Tysnes, Roald Omdal
Many factors have been linked to fatigue in patients with Parkinson's disease (PD), including age, female sex, disease severity, depression, cognition, sleep disturbances, activities of daily living, and the use of dopamine agonists.1, 2 While these sociodemographic and non-motor phenomena undoubtedly impact fatigue, they do not elucidate the molecular mechanisms underlying it. To the best of our knowledge
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Transitioning from Subtyping to Precision Medicine in Parkinson's Disease: A Purpose-Driven Approach Mov. Disord. (IF 8.6) Pub Date : 2024-01-20 Connie Marras, Seyed-Mohammad Fereshtehnejad, Daniela Berg, Nicolaas I. Bohnen, Kathy Dujardin, Roberto Erro, Alberto J. Espay, Glenda Halliday, Jacobus J. Van Hilten, Michele T. Hu, Beomseok Jeon, Christine Klein, Albert F.G. Leentjens, Brit Mollenhauer, Ronald B. Postuma, Mayela Rodríguez-Violante, Tanya Simuni, Daniel Weintraub, Michael Lawton, Tiago A. Mestre
The International Parkinson and Movement Disorder Society (MDS) created a task force (TF) to provide a critical overview of the Parkinson's disease (PD) subtyping field and develop a guidance on future research in PD subtypes. Based on a literature review, we previously concluded that PD subtyping requires an ultimate alignment with principles of precision medicine, and consequently novel approaches
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Management of Impulse Control and Related Disorders in Parkinson's Disease: An Expert Consensus Mov. Disord. (IF 8.6) Pub Date : 2024-01-17 Ines Debove, Steffen Paschen, Deborah Amstutz, Francisco Cardoso, Jean-Christophe Corvol, Victor S.C. Fung, Anthony E. Lang, Pablo Martinez Martin, María C. Rodríguez-Oroz, Daniel Weintraub, Paul Krack, Günther Deuschl
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Morbus Fabry and Parkinson's Disease—More Evidence for a Possible Genetic Link Mov. Disord. (IF 8.6) Pub Date : 2024-01-16 Susanne Müller, Jan Kassubek, Stephan T. Hold, David C. Kasper, Benjamin Mayer, Kathrin Müller, Axel Freischmidt, Reiner Siebert, Heiko Braak, Albert C. Ludolph, Kelly Del Tredici
Although investigation of the potential role of lysosomal storage disorders in Parkinson's disease (PD) has been ongoing since reports highlighted that Gaucher disease can be accompanied by parkinsonism,1for Fabry disease (FD), an X-linked recessive multisystem disorder caused by Galactosidase gene (GLA) mutations, the potential relationship to PD has not been studied until more recently2 and literature