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Corticospinal Tract Development, Evolution, and Skilled Movements Mov. Disord. (IF 7.4) Pub Date : 2025-04-25 Emmanuel Roze, Caroline Dubacq, Quentin Welniarz
The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter. Here, we examine the developmental steps contributing to the CST projection pattern from an evolutionary point of view. Recent
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Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase Mov. Disord. (IF 7.4) Pub Date : 2025-04-25 Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Georgi Krastev, Alice Saparov, Virginie Pichon, Marlène Malbos, Clarisse Scherer, Ivana Dzinovic, Matej Skorvanek, Robert Kopajtich, Holger Prokisch, Sara Silvaieh, Anna Grisold, Maria Mazurkiewicz‐Bełdzińska, Jean‐Madeleine de Sainte Agathe, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech
BackgroundDefects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements.ObjectiveThe aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B.MethodsWe recruited regionally distant patients who had been
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Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia Mov. Disord. (IF 7.4) Pub Date : 2025-04-23 Thomas Wirth, Kishore R. Kumar, Michael Zech
Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing. In the field of dystonia, promising results have come from recent pilot studies showing
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Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next Mov. Disord. (IF 7.4) Pub Date : 2025-04-23 Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata
Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human studies in English reporting familial NPH cases, genetic variants
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Molecular‐Informed Network Analysis Unveils Fatigue‐Related Functional Connectivity in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-22 Ilaria Antonella Di Vico, Manuela Moretto, Agnese Tamanti, Giovanni Tomelleri, Giulia Burati, Daniel Martins, Ottavia Dipasquale, Mattia Veronese, Alessandra Bertoldo, Elisa Menini, Angela Sandri, Sarah Ottaviani, Francesca Benedetta Pizzini, Michele Tinazzi, Marco Castellaro
BackgroundFatigue in Parkinson's disease (PD) is a prevalent and debilitating non‐motor symptom. Despite its significant impact on quality of life, the underlying neurochemical and network‐based mechanisms remain poorly understood.ObjectivesThis observational study applied a multimodal imaging approach to explore potential links between the functional connectivity of neurotransmitter‐specific circuits
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In Memoriam Nir Giladi, MD (1955–2024) Mov. Disord. (IF 7.4) Pub Date : 2025-04-22 Serge Przedborski, Bastiaan R. Bloem, Vladimir S. Kostic
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The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China. Mov. Disord. (IF 7.4) Pub Date : 2025-04-19 Zhiru Lin,Dehao Yang,Lebo Wang,Jiaxiang Li,Xinhui Chen,Nan Jin,Yixin Kang,Xinchen Wang,Feng Fu,Haotian Wang,Xiaosheng Zheng,Fei Xie,Zhidong Cen,Wei Luo
BACKGROUND Primary brain calcification (PBC) is a monogenic inherited disease characterized by calcifications in basal ganglia and other brain regions, with seven causative genes identified and highly heterogeneous genetic and phenotypic spectrum. OBJECTIVE The objective was to update the genetic and phenotypic spectrum of PBC in a large cohort from China. METHODS Five hundred eighty-four PBC families
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Validation of the International Parkinson and Movement Disorder Society Non‐Motor Symptoms Questionnaire (MDS‐NMS‐Q) Mov. Disord. (IF 7.4) Pub Date : 2025-04-19 Daniel Weintraub, Kallol Ray Chaudhuri, Anette Schrag, Pablo Martinez‐Martin, Alexandra Rizos, Eugenia Mamikonyan, Julia Gallagher, Izabelle Schoen, Juliet Staunton, Marta Pereira Fernandes, Carmen Rodriguez‐Blazquez
BackgroundThe Movement Disorder Society Non‐Motor Rating Scale (MDS‐NMS) assesses severity and frequency of non‐motor symptoms (NMS) in Parkinson's disease (PD) and is rater‐administered. The MDS‐NMS Questionnaire (MDS‐NMS‐Q), developed as a briefer (i.e., assessing symptom severity only), self‐completed version of the MDS‐NMS, is also a 13‐domain, 52‐symptom instrument with a separate non‐motor fluctuations
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Cortical Effects of Dopamine Replacement Account for Clinical Response Variability in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-18 Alex I. Wiesman, Mikkel C. Vinding, Panagiota Tsitsi, Per Svenningsson, Josefine Waldthaler, Daniel Lundqvist
BackgroundIndividual variability in clinical response to dopamine replacement therapy (DRT) is a key barrier to efficacious treatment for patients with Parkinson's disease (PD). A better understanding of the neurobiological sources of such interindividual differences is necessary to personalize DRT prescribing, inform future clinical interventions, and motivate translational research.ObjectiveOne potential
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Treatment Selection and Prioritization for the EJS ACT-PD MAMS Trial Platform. Mov. Disord. (IF 7.4) Pub Date : 2025-04-18 Cristina Gonzalez-Robles,Dilan Athauda,Thomas R Barber,Roger A Barker,David T Dexter,Susan Duty,Romy Ellis-Doyle,Sonia Gandhi,Joel Handley,Edwin Jabbari,Keith Martin,Kevin McFarthing,Georgia Mills,Heather Mortiboys,Stephen Mullin,Rebecca Petty,Esther Sammler,Paula Scurfield,Simon R W Stott,George K Tofaris,Li Wei,Caroline H Williams-Gray,Alan Wong,Marie-Louise Zeissler,Richard K Wyse,Camille B Carroll
BACKGROUND There are currently no disease-modifying therapies (DMTs) registered for Parkinson's disease (PD). The Edmond J. Safra Accelerating Clinical Trials in Parkinson Disease (EJS ACT-PD) initiative will expedite clinical assessment of putative DMTs through a multi-arm multistage (MAMS) trial, testing several treatments against a common placebo arm and replacing unsuccessful therapies early. OBJECTIVE
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Efficacy and Safety of Magnetic Resonance‐Guided Focused Ultrasound Thalamotomy in Essential Tremor: A Systematic Review and Metanalysis Mov. Disord. (IF 7.4) Pub Date : 2025-04-17 Alyssa Shiramba, Steven Lane, Nicola Ray, Tom Gilbertson, Rajesha Srinivasaiah, Jay Panicker, Mark Radon, Jibril Osman‐Farah, Antonella Macerollo
BackgroundMagnetic resonance‐guided focused ultrasound (MRgFUS) is an established surgical treatment for essential tremor, providing tremor relief without the need for an incision or general anesthesia. Meta‐analyses have been limited in their exploration of the durability of the treatment effect.ObjectivesThe study aimed to assess the treatment effect and safety of this procedure over time. Different
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Transcutaneous Tibial Nerve Stimulation for Overactive Bladder Symptoms in Parkinson's Disease: Results from a Phase II Randomized Control Trial (STRIPE). Mov. Disord. (IF 7.4) Pub Date : 2025-04-17 Matthew D Smith,Gabriella E Portlock,Anisha Cullen,Anahita Nodehi,Marcus J Drake,Yoav Ben-Shlomo,Emily J Henderson
BACKGROUND Lower urinary tract symptoms (LUTS) are common Parkinson's disease (PD), causing great impact. OBJECTIVE The goal was to undertake a phase II randomized control trial of transcutaneous tibial nerve stimulation (TTNS) delivered by Geko device for LUTS related to overactive bladder (OAB) in PD, an easy to use of the shelf solution. METHODS Participants were randomized to active/sham stimulation
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Pathophysiological Role of Primary Motor Cortex in Essential Tremor Mov. Disord. (IF 7.4) Pub Date : 2025-04-17 Daniele Birreci, Luca Angelini, Giulia Paparella, Davide Costa, Antonio Cannavacciuolo, Massimiliano Passaretti, Martina De Riggi, Simone Aloisio, Donato Colella, Andrea Guerra, Matteo Bologna
BackgroundEssential tremor (ET) is one of the most prevalent movement disorders. However, the complete understanding of ET pathophysiology remains elusive.ObjectiveTo explore the pathophysiological role of primary motor cortex (M1) in ET, specifically exploring its neurophysiological changes and their correlation with voluntary motor abnormalities.MethodsWe recruited 30 ET patients and 18 healthy controls
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Reduced Penetrance in Interferonopathy‐Associated Dystonia: Hope for Clues to Mechanism? Mov. Disord. (IF 7.4) Pub Date : 2025-04-16 Martin Krenn, Michael Zech
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We are FAM(171A2)‐ily: A New Member of a Family of Cell Surface Receptors that Bind Extracellular α‐Synuclein Fibrils Mov. Disord. (IF 7.4) Pub Date : 2025-04-16 Lauren A. Fielding, Laura A. Volpicelli‐Daley
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Novel In‐Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4‐Aminopyridine Mov. Disord. (IF 7.4) Pub Date : 2025-04-15 Ignacio J. Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger, Lisa Kinsley, Bernabe I. Bustos, Dimitri Krainc, Niccolò E. Mencacci
BackgroundSpinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood‐onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss‐of‐function FGF14 variants.ObjectivesWe report the identification of a novel FGF14 variant in a five‐generation family with autosomal dominant ataxia and describe the clinical phenotype and response to subthalamic
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Cholinergic System Changes in Dopa‐Unresponsive Freezing of Gait in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-12 Kelvin L. Chou, Prabesh Kanel, Miriam van Emde Boas, Stiven Roytman, Giulia Carli, Roger L. Albin, Nicolaas I. Bohnen
BackgroundFreezing of gait (FoG) is a debilitating mobility disturbance that becomes increasingly resistant to dopaminergic pharmacotherapies with advancing Parkinson's disease (PD). The pathophysiology underlying the response of FoG to dopaminergic treatment is poorly understood. Prior vesicular acetylcholine transporter positron emission tomography (VAChT PET) imaging studies implicate the degeneration
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Decreased Peripheral Blood Lymphocytes in Spinocerebellar Ataxia Type 3 Correlate with Disease Severity Mov. Disord. (IF 7.4) Pub Date : 2025-04-10 Qi Deng, Cuiling Tang, Zhao Chen, Xinrong Yuan, Ziyan Ding, Chunrong Wang, Linlin Wan, Jian Hu, Feiyan Deng, Zhe Long, Lang He, Linliu Peng, Lijing Lei, Hongyu Yuan, Na Wan, Yiqing Gong, Yan Tan, Siyu Ding, Beisha Tang, Rong Qiu, Hong Jiang
BackgroundThe immune system likely plays a role in the pathogenesis of spinocerebellar ataxia type 3 (SCA3). Peripheral blood leukocytes are indicative of the immune status in neurodegenerative diseases. However, alterations in the characteristics of peripheral blood leukocytes at different stages of SCA3 and their potential roles in disease progression remain unclear.ObjectivesThe goal was to identify
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Anosmia and Upper Limb Rigidity—A Potential Phenotype of Idiopathic Normal Pressure Hydrocephalus with Cerebrospinal Fluid α‐Synuclein Seeds Mov. Disord. (IF 7.4) Pub Date : 2025-04-09 Sandrina Weber, Carly M. Farris, Yihua Ma, Mohammed Dakna, Maritta Starke, Sebastian Schade, Michael Bartl, Claudia Trenkwalder, Luis Concha‐Marambio, Brit Mollenhauer
BackgroundThe pathophysiology of idiopathic normal pressure hydrocephalus (iNPH) and its association with neurodegenerative disorders is poorly understood.ObjectivesThe aim was to determine the prevalence of α‐synuclein pathology in iNPH and its associations with clinical characteristics.MethodsWe used α‐synuclein seed amplification assay (synSAA) to retrospectively analyze cerebrospinal fluid (CSF)
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Noninvasive Temporal Interference Stimulation of the Subthalamic Nucleus in Parkinson's Disease Reduces Beta Activity Mov. Disord. (IF 7.4) Pub Date : 2025-04-09 Martin Lamoš, Martina Bočková, Florian Missey, Claudia Lubrano, Mariane de Araújo e Silva, Jan Trajlínek, Ondřej Studnička, Pavel Daniel, Romain Carron, Viktor Jirsa, Jan Chrastina, Radim Jančálek, Eric Daniel Glowacki, Antonino Cassara, Esra Neufeld, Irena Rektorová, Adam Williamson
BackgroundTemporal interference stimulation (TIS) is a novel noninvasive electrical stimulation technique to focally modulate deep brain regions; a minimum of two high‐frequency signals (f1 and f2 > 1 kHz) interfere to create an envelope‐modulated signal at a deep brain target with the frequency of modulation equal to the difference frequency: Δf = |f2 – f1|.ObjectiveThe goals of this study were to
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Diffusion along Perivascular Spaces as a Marker for Glymphatic System Impairment in Huntington's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-09 Jin‐Hui Yin, Ling‐Xiao Cao, Ya‐Ou Liu, Yue Huang
BackgroundThe aim was to investigate if glymphatic function is impaired in patients with Huntington's disease (HD) and its clinical relevance.MethodsForty‐nine subjects carrying mutant Huntingtin (mHTT), comprising 35 manifest (mHD) and 14 pre‐manifest (PreHD), and 35 healthy controls (HC) were recruited in this study. The diffusion along perivascular spaces (ALPS) index and the percentage of perivascular
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Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy Mov. Disord. (IF 7.4) Pub Date : 2025-04-09 Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert, Sabine Kaya, Claudia Del Gamba, Kelly Astudillo, Steven Frucht, Marion Simonetta‐Moreau, Eric Bieth, Iris Unterberger, Giulietta Maria Riboldi, Christel Depienne
BackgroundFamilial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.ObjectiveWe investigated the genetic basis of dominant cortical myoclonus without seizures in two unrelated families.MethodsRepeat‐primed polymerase
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Levodopa—An Oldie but a Goodie—Time to Make It Accessible to All in Sub‐Saharan Africa Mov. Disord. (IF 7.4) Pub Date : 2025-04-07 Indu Subramanian, Njideka Okubadejo, Natasha Fothergill‐Misbah
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Antero‐Lateral Subthalamic Nucleus Theta Stimulation Improves Verbal Fluency in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-04 Hannah Schoenwald, Bahne H. Bahners, Silja Kannenberg, Till A. Dembek, Michael T. Barbe, Dafina Sylaj, Anja Spiewok, Saskia Elben, Tomke Muettel, Jan Vesper, Philipp Slotty, Alfons Schnitzler, Stefan J. Groiss
ObjectiveLow‐frequency deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been associated with positive effects on verbal fluency (VF) in patients with Parkinson's disease. This prospective study investigates stimulation direction‐dependent and site‐specific effects of theta frequency DBS on VF.MethodsIn a double‐blind, cross‐over design (n = 20), we tested VF during left subthalamic
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Trajectories of Pontine Volume in Patients with Multiple System Atrophy Mov. Disord. (IF 7.4) Pub Date : 2025-04-04 Kazuya Kawabata, Florian Krismer, Mizuki Ito, Kazuhiro Hara, Epifanio Bagarinao, Vincent Beliveau, Patrice Péran, Germain Arribarat, Anne Pavy‐Le Traon, Wassilios G. Meissner, Alexandra Foubert‐Samier, Margherita Fabbri, Mark Forrest Gordon, Aya Ogura, Masahisa Katsuno, Olivier Rascol, Christoph Scherfler, Klaus Seppi, Hirohisa Watanabe, Werner Poewe
ObjectivesTo investigate trajectories of regional brain volume changes in multiple system atrophy (MSA) and their potential utility as surrogate markers of disease progression in the cerebellar subtype (MSA‐C).BackgroundReliable biomarkers for tracking disease progression in MSA are urgently needed. Although several studies have explored neuroimaging markers, imaging measures that are reliable and
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Spinal Cord Stimulation Failed to Improve Parkinson's Disease Symptoms in Randomized Crossover Double‐Blinded Evaluation Mov. Disord. (IF 7.4) Pub Date : 2025-04-04 Rafael Bernhart Carra, Lucas Ávila Lessa Garcia, Janaina Reis Menezes, Tamine Capato, Francielle Santos, Egberto Reis Barbosa, Kleber Paiva Duarte, Fabio Godinho, Manoel Jacobsen Teixeira, Daniel Ciampi de Andrade, Rubens Gisbert Cury
BackgroundEpidural electrical spinal cord stimulation has been studied for more than a decade for Parkinson's disease symptoms, but compelling evidence for its effectiveness is still lacking.ObjectiveThe aim of this study was to evaluate the effectiveness of spinal cord stimulation in Parkinson's disease.MethodsParticipants had Parkinson's disease diagnosis, gait impairment and freezing of gait, and
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Motor Cortex Disinhibition Correlates with Olfactory Dysfunction in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-04-02 Claudia Ammann, Cristina Pagge, Emmanuelle Wilhelm, Chiara Galletti, Tamara Jimenez‐Castellanos, Michele Matarazzo, Agustina Ruiz‐Yanzi, Carmen Gasca‐Salas, Raul Martínez‐Fernández, Fernando Alonso‐Frech, Antonio Oliviero, José A. Obeso, Guglielmo Foffani
BackgroundMotor cortex disinhibition, as measured by impaired short‐interval intracortical inhibition (SICI) using transcranial magnetic stimulation (TMS), is a well‐established feature of Parkinson's disease (PD). However, its substantial variability among patients remains unexplained, prompting questions about its origin, clinical relevance, and connection to disease heterogeneity.ObjectiveBased
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Plasma Biomarkers and Disease Prognosis in Mild Cognitive Impairment with Lewy Bodies Mov. Disord. (IF 7.4) Pub Date : 2025-03-31 Paul C. Donaghy, Jahfer Hasoon, Calum A. Hamilton, Joanna Ciafone, Rory Durcan, Nicola Barnett, Kirsty Olsen, Sarah Lawley, Gemma Greenfinch, Michael Firbank, Amanda Heslegrave, Henrik Zetterberg, Louise Allan, John T. O'Brien, John‐Paul Taylor, Alan J. Thomas
BackgroundLittle is known about the prognostic value of plasma biomarkers in mild cognitive impairment with Lewy bodies (MCI‐LB).ObjectivesTo investigate the association of four plasma biomarkers with disease progression in MCI.MethodsPlasma amyloid‐beta (Aβ)42/40, glial fibrillary acidic protein (GFAP), neurofilament light (NfL), and phosphorylated tau 181 (pTau181) were measured at baseline in a
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Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2 Mov. Disord. (IF 7.4) Pub Date : 2025-03-30 Sarah D. Neuman, Rajan S. Thakur, Scott J. Gratz, Kate M. O'Connor‐Giles, Arash Bashirullah
BackgroundBridge‐like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early‐onset neurodevelopmental and later‐onset neurodegenerative diseases, including movement disorders. The tissue specificity and temporal requirements of BLTPs in disease pathogenesis remain poorly understood.ObjectiveThe objective of this study was
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Neuropsychological Tests of Memory, Visuospatial, and Language Function in Parkinson's Disease: Review, Critique, and Recommendations. Mov. Disord. (IF 7.4) Pub Date : 2025-03-27 Ondrej Bezdicek,Roberta Biundo,Sarai Boelema,Davide Maria Cammisuli,Brenna Cholerton,Alice Cronin-Golomb,John C Dalrymple-Alford,Annelien Duits,Robert Fellows,Adam Gerstenecker,Hanane El Hachioui,Hana Horáková,Janneke Koerts,Bonnie Levin,Inga Liepelt-Scarfone,Marina Sarno,Tiago A Mestre,Álvaro Sánchez Ferro,Michelle Hyczy de Siqueira Tosin,Matej Skorvanek,Daniel Weintraub,Gert J Geurtsen,
BACKGROUND Cognitive impairment in Parkinson's disease (PD) is a key non-motor complication during the disease course. OBJECTIVES A review of detailed cognitive instruments to detect mild cognitive impairment (PD-MCI) or dementia (PDD) is needed to establish optimal tests that facilitate diagnostic accuracy. METHODS We performed a systematic literature review of tests that assess memory, language including
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Artificial Intelligence‐Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias Mov. Disord. (IF 7.4) Pub Date : 2025-03-23 Lucas Alessandro, Nicolas Bianciotti, Luciana Salama, Santiago Volmaro, Veronica Navarrine, Lucia Ameghino, Julieta Arena, Santiago Bestoso, Veronica Bruno, Sergio Castillo Torres, Mauricio Chamorro, Blas Couto, Tomas De La Riestra, Florencia Echeverria, Juan Genco, Federico Gonzalez del Boca, Marlene Guarnaschelli, Juan Carlos Giugni, Alfredo Laffue, Viviana Martinez Villota, Alex Medina Escobar,
BackgroundChronic ataxias, a complex group of over 300 diseases, pose significant diagnostic challenges because of their clinical and genetic heterogeneity. Here, we propose that artificial intelligence (AI) can aid in the identification and understanding of these disorders through the utilization of a smart virtual assistant.ObjectivesThe aim is to develop and validate an AI‐powered virtual assistant
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Conversion between NMSS and MDS‐NMS in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-03-20 Michela Garon, José‐Manuel Rojo‐Albuin, K. Ray Chaudhuri, Alexandra Rizos, Carmen Rodriguez‐Blazquez, Eugenia Mamikonyan, Roberta Biundo, Anette Schrag, Daniel Weintraub, Angelo Antonini, Per Odin, Pablo Martinez‐Martin
BackgroundThe burden of non‐motor symptoms in Parkinson's disease (PD) can be measured with the Non‐Motor Symptoms Scale (NMSS) and the International Parkinson and Movement Disorder Society Non‐Motor Rating Scale (MDS‐NMS), for which scoring systems, structure and clinical coverage differ.ObjectivesThe goal was to develop conversion formulas between the NMSS and the MDS‐NMS scores.MethodsData from
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The Heart of the Matter: Cardiac Denervation Casts Doubt on the Brain‐First Versus Body‐First Hypothesis of Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2025-03-18 Tomoko Totsune, Toru Baba, Takafumi Hasegawa, Atsushi Takeda
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Antidopaminergic Medications and Clinical Changes in Measures of Huntington's Disease: A Causal Analysis Mov. Disord. (IF 7.4) Pub Date : 2025-03-18 Michal Geva, Y. Paul Goldberg, Henk Schuring, Andrew M. Tan, Jeffrey D. Long, Michael R. Hayden
BackgroundAntidopaminergic medications (ADM) are often used for symptom management of Huntington's disease (HD). Evidence from past research suggests that ADMs are associated with worse clinical outcomes in HD, but their impact on various domains remains underexplored.ObjectiveWe used causal inference analysis to understand the impact of ADM use on measures of clinical progression in HD across multiple
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Is Parkinson Disease Better Defined Solely by Biology or as a Clinical–Biological Entity? Lessons to be Learned from Alzheimer's Disease on Biological Definition and Staging Mov. Disord. (IF 7.4) Pub Date : 2025-03-18 Tiago A. Mestre, Cristina Sampaio
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Treatment for Dyskinesia in Parkinson's Disease: A Network Meta‐analysis of Randomized Controlled Trials Mov. Disord. (IF 7.4) Pub Date : 2025-03-18 Rui Yan, Xiaoqing Zheng, Yixuan Yin, Junjiao Zhang, Yusha Cui, Dongning Su, Zhirong Wan, Tao Feng
BackgroundDyskinesia is a motor complication of Parkinson's disease (PD) posing therapeutic challenges. The optimal therapy for dyskinesia in PD has not been identified due to the lack of comprehensive evaluation of treatments.ObjectiveThe aim was to compare the efficacy and safety of interventions for alleviating levodopa‐induced dyskinesia in PD.MethodsWe conducted a Bayesian network meta‐analysis
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Long‐Term Stability of Spatial Distribution and Peak Dynamics of Subthalamic Beta Power in Parkinson's Disease Patients Mov. Disord. (IF 7.4) Pub Date : 2025-03-18 Jennifer K. Behnke, Robert L. Peach, Jeroen G.V. Habets, Johannes L. Busch, Jonathan Kaplan, Jan Roediger, Varvara Mathiopoulou, Lucia K. Feldmann, Moritz Gerster, Juliette Vivien, Gerd‐Helge Schneider, Katharina Faust, Patricia Krause, Andrea A. Kühn
BackgroundSubthalamic beta oscillations are a biomarker for bradykinesia and rigidity in Parkinson's disease (PD), incorporated as a feedback signal in adaptive deep brain stimulation with potential for guiding electrode contact selection. Understanding their longitudinal stability is essential for successful clinical implementation.ObjectivesWe aimed to analyze the long‐term dynamics of beta peak
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Deep Learning–Based Artificial Intelligence Algorithm to Classify Tremors from Hand‐Drawn Spirals Mov. Disord. (IF 7.4) Pub Date : 2025-03-17 Reghu Anandapadmanabhan, Aayushi Vishnoi, Geetha Raman, Jeena Thachan, Beulah Amulyavathi Gangaraju, Divya Radhakrishnan, Venugopalan Yamuna Vishnu, Nitish Kamble, Vikram Holla, Praveen James, Achal Srivastava, Deepak Joshi, Ashish Mahabal, Syam Krishnan, Pramod Pal, Roopa Rajan
BackgroundNo objective biomarkers exist for diagnosing and classifying tremor syndromes.ObjectiveThe aim was to develop and validate a deep learning (DL) algorithm for classifying tremors from hand‐drawn pen‐on‐paper spirals.MethodsWe recruited participants with dystonic tremor (DT), essential tremor (ET), essential tremor plus (ETP), Parkinson's disease (PD), cerebellar ataxia (AT), and healthy volunteers
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NLX‐112 Randomized Phase 2A Trial: Safety, Tolerability, Anti‐Dyskinetic, and Anti‐Parkinsonian Efficacy Mov. Disord. (IF 7.4) Pub Date : 2025-03-17 Per Svenningsson, Per Odin, Filip Bergquist, Karin Wirdefeldt, Dag Nyholm, Mattias Andréasson, Ioanna Markaki, Anders C. Johansson, Måns Jergil, Christopher Jankosky, Mark A. Varney, Fabienne Herbrecht, Steven A. Johnson, Adrian Newman‐Tancredi
BackgroundLevodopa‐induced dyskinesia (LID) in Parkinson's disease (PD) is associated with ‘false neurotransmitter’ release of dopamine from serotonin (5‐HT) neurons. NLX‐112 is a first‐in‐class, highly selective 5‐HT1A receptor agonist which counteracts LIDs in experimental PD models.ObjectivesThe primary objective was to evaluate the safety and tolerability of NLX‐112 compared with placebo in people
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Obituary for C. Warren Olanow Mov. Disord. (IF 7.4) Pub Date : 2025-03-17 José A. Obeso, Anthony H.V. Schapira, Fabrizio Stocchi
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Brain Imaging Phenotypes Associated with Polygenic Risk for Essential Tremor Mov. Disord. (IF 7.4) Pub Date : 2025-03-15 Miranda Medeiros, Alexandre Pastor‐Bernier, Houman Azizi, Zoe Schmilovich, Charles‐Etienne Castonguay, Peter Savadjiev, Jean‐Baptiste Poline, Etienne St‐Onge, Fan Zhang, Lauren J. O'Donnell, Ofer Pasternak, Yashar Zeighami, Patrick A. Dion, Alain Dagher, Guy A. Rouleau
Essential tremor (ET) is a common movement disorder with a strong genetic basis. Magnetic resonance imaging (MRI), particularly diffusion‐weighted MRI (dMRI) and T1 MRI, have been used to identify brain abnormalities of ET patients. However, the mechanisms by which genetic risk affects the brain to render individuals vulnerable to ET remain unknown. We aimed to understand how ET manifests by identifying
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Patients with Allan‐Herndon‐Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment Mov. Disord. (IF 7.4) Pub Date : 2025-03-15 Nina‐Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie‐Thérèse Henke, Andrea Dell'Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung‐Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke
BackgroundPatients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve patient‐oriented therapeutic goals.ObjectivesOur aim was to
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Finely Tuned γ Tracks Medication Cycles in Parkinson's Disease: An Ambulatory Brain‐Sense Study Mov. Disord. (IF 7.4) Pub Date : 2025-03-13 Aaron Colombo, Elena Bernasconi, Laura Alva, Mario Sousa, Ines Debove, Andreas Nowacki, Camille Serquet, Katrin Petermann, T.A. Khoa Nguyen, Andreia D. Magalhães, Lenard Lachenmayer, Julia Waskönig, Tobias Nef, Michael Schuepbach, Claudio Pollo, Paul Krack, Alberto Averna, Gerd Tinkhauser
BackgroundNovel commercial brain‐sense neurostimulators enable us to contextualize brain activity with symptom and medication states in real‐life ambulatory settings in Parkinson's disease (PD). Although various candidate biomarkers have been proposed for adaptive deep brain stimulation (DBS), a comprehensive comparison of their ambulatory profiles is lacking.ObjectivesTo systematically compare the
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Treatment Efficacy of Theophylline in ADCY5‐Related Dyskinesia: A Retrospective Case Series Study Mov. Disord. (IF 7.4) Pub Date : 2025-03-13 Dirk Taenzler, Frank Hause, Andreas Merkenschlager, Andrea Sinz
BackgroundADCY5‐related dyskinesia is a rare disorder caused by mutations in the ADCY5 gene resulting in abnormal involuntary movements. Currently, there are no standardized guidelines to treat this condition.ObjectiveThe aim of this study was to evaluate the efficacy of theophylline administration in improving symptoms and quality of life in patients with ADCY5‐related dyskinesia.MethodsA retrospective
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Freezing of Gait During Crawling: The Role of Four‐Limb Coordination? Mov. Disord. (IF 7.4) Pub Date : 2025-03-12 Marie‐Laure Welter, Jean‐Christophe Corvol, Marco Romanato, Brian Lau, Carine Karachi, Jorik Nonnekes, Baastian R. Bloem
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Update on Treatments for Parkinson's Disease Motor Fluctuations – An International Parkinson and Movement Disorder Society Evidence‐Based Medicine Review Mov. Disord. (IF 7.4) Pub Date : 2025-03-12 Rob M.A. de Bie, Regina Katzenschlager, Bart E.K.S. Swinnen, Marina Peball, Shen‐Yang Lim, Tiago A. Mestre, Santiago Perez Lloret, Miguel Coelho, Camila Aquino, Ai Huey Tan, Veronica Bruno, Joke M. Dijk, Beatrice Heim, Chin‐Hsien Lin, Linda Azevedo Kauppila, Irene Litvan, René Spijker, Klaus Seppi, João Costa, Cristina Sampaio, Susan H. Fox, Monty A. Silverdale
ObjectiveTo update evidence‐based medicine recommendations for treating motor fluctuations of Parkinson's disease (PD).BackgroundThe International Parkinson and Movement Disorder Society (MDS) Evidence Based Medicine in Movement Disorders Committee recommendations for the treatments of PD were first published in 2002 and regularly updated. The current review uses a new methodology, including the Cochrane
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Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies Mov. Disord. (IF 7.4) Pub Date : 2025-03-12 Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice
Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings. However, many likely monogenic disorders still lack an accurate molecular diagnosis
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Assessment of Piezo1 Expression in Urinary Exfoliated Cells as a Diagnostic Indicator for Multiple System Atrophy Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Han Liu, Qingyong Zhu, Jiuqi Wang, Chi Qin, Renyi Feng, Heng Wu, Beisha Tang, Junfang Teng, Mingming Ma, Xuebing Ding, Xuejing Wang
BackgroundMultiple system atrophy (MSA) shares clinical features with idiopathic Parkinson’ s disease (iPD) and progressive supranuclear palsy (PSP), yet reliable biomarkers for differential diagnosis remain elusive.ObjectivesThis study aimed to evaluate Piezo1/2 expression in urinary exfoliated cells as a potential biomarker for MSA differentiation.MethodsPiezo1/2 expression levels were quantified
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Oscillatory Coupling Between Thalamus, Cerebellum, and Motor Cortex in Essential Tremor Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Alexandra Steina, Sarah Sure, Markus Butz, Jan Vesper, Alfons Schnitzler, Jan Hirschmann
BackgroundEssential tremor is hypothesized to emerge from synchronized oscillatory activity within the cerebello‐thalamo‐cortical circuit. However, this hypothesis has not yet been tested using local field potentials directly recorded from the thalamus alongside signals from both the cortex and cerebellum, leaving a gap in the understanding of essential tremor.ObjectivesTo clarify the importance of
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Isolated Choreic Manifestations Indicative of Anti‐Amphiphysin Antibody‐Related Encephalitis in Breast Cancer Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Stela Dodaj, Marie Rafiq, Raquel Barbosa, Chloé Bost, Margherita Fabbri, Clémence Leung, Fabrice Bonnevile, Jérémie Pariente, Fabienne Ory‐Magne
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Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Anna L. Burt, Gilbert L'Italien, Susan L. Perlman, Liana S. Rosenthal, Sheng‐Han Kuo, Tetsuo Ashizawa, Theresa Zesiewicz, Cameron Dietiker, Puneet Opal, Antoine Duquette, George R. Wilmot, Vikram G. Shakkottai, Christopher M. Gomez, Sharan R. Srinivasan, Henry Paulson, Michael D. Geschwind, Sandie Worley, Chiadi U. Onyike, Andrew Billnitzer, Amy Ferng, Kristen Matulis, Marie Y. Davis, Sub H. Subramony
BackgroundThe Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally.ObjectiveWe aimed to validate PROM‐Ataxia as a measure of patient experience of disease over time, examine overall and domain‐specific progression, and test convergent validity with other clinical outcome assessments (COAs).MethodsWe derived PROM‐Ataxia data from 176 patients
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Thalamic Deep Brain Stimulation Versus Magnetic Resonance–Guided Focused Ultrasound in Tremor Patients: A Retrospective Single‐Surgeon Comparison Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Christian Rainer Baumann, Andreas Fleisch, Sujitha Mahendran, Mechtild Uhl, Carola Freudinger, Evdokia Efthymiou, Markus Florian Oertel, Lennart Henning Stieglitz, Fabian Büchele
BackgroundBilateral deep brain stimulation (DBS) and unilateral magnetic resonance–guided focused ultrasound (MRgFUS), with potential future second‐side treatment targeting the thalamic ventral intermediate nucleus (VIM), are currently the two best‐established interventions for pharmaco‐resistant tremors, but treatment selection is hampered by the lack of comparative evidence.ObjectiveTo provide the
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Orthostatic Hypotension and Cognition in Lewy Body Disorders: On Promising Tides Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 Abhimanyu Mahajan, Christopher B. Morrow, Joseph Seemiller, Kelly A. Mills, Gregory M. Pontone
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Dysautonomia Is Associated with Cognitive Fluctuation in Dementia with Lewy Bodies Mov. Disord. (IF 7.4) Pub Date : 2025-03-11 João Durães, Miguel Tábuas‐Pereira, Catarina Bernardes, Marisa Lima, Cláudia Cavadas, Isabel Santana