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Integrating Social Work in Late‐Stage Parkinson's Care: A Multifaceted Approach Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Shijie Guo, Guang Yang
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Reply to Letter to the Editor‐MDS‐23‐0498.R2/MDS‐24‐0318.R1 Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Christopher Kruse, Richard Dodel, Anette Schrag
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Heterogeneity of CSF1R‐RD: Genes, Environment, or Both? Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Jarosław Dulski, Zbigniew K. Wszolek
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Reply to: “Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome” Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Kathy Dujardin, Céline Tard, Emily Diglé, Virginie Herlin, Eugénie Mutez, Jean‐Baptiste Davion, Anna Wissocq, Violette Delforge, Gregory Kuchcinski, Vincent Huin
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Reply to: Heterogeneity of CSF1R‐RD: Genes, Environment, or Both? Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Jingying Wu, Li Cao
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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome Mov. Disord. (IF 7.4) Pub Date : 2024-07-19 Ines Albajar, Pablo Iruzubieta, Myriam Barandiaran, Patricia Alves, Aurora Pujol, Edgard Verdura, Jon Equiza, Iratxe Urreta, Javier Ruiz‐Martínez, Miren Maneiro, Roberto Fernandez‐Torron, Juan Jose Poza, Elisabet Mondragón, Adolfo Lopez de Munain
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Neuroinflammation Parallels 18F‐PI‐2620 Positron Emission Tomography Patterns in Primary 4‐Repeat Tauopathies Mov. Disord. (IF 7.4) Pub Date : 2024-07-18 Maura Malpetti, Sebastian N. Roemer, Stefanie Harris, Mattes Gross, Johannes Gnörich, Andrew Stephens, Anna Dewenter, Anna Steward, Davina Biel, Amir Dehsarvi, Fabian Wagner, Andre Müller, Norman Koglin, Endy Weidinger, Carla Palleis, Sabrina Katzdobler, Rainer Rupprecht, Robert Perneczky, Boris‐Stephan Rauchmann, Johannes Levin, Günter U. Höglinger, Matthias Brendel, Nicolai Franzmeier
BackgroundPreclinical, postmortem, and positron emission tomography (PET) imaging studies have pointed to neuroinflammation as a key pathophysiological hallmark in primary 4‐repeat (4R) tauopathies and its role in accelerating disease progression.ObjectiveWe tested whether microglial activation (1) progresses in similar spatial patterns as the primary pathology tau spreads across interconnected brain
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Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease Mov. Disord. (IF 7.4) Pub Date : 2024-07-18 Mary Kate LoPiccolo, Zerui Wang, Gadi Maayan Eshed, Luca Fierro, Chanan Stauffer, Kelly Wang, Jing Zhang, Curtis Tatsuoka, Manisha Balwani, Wen‐Quan Zou, Roy N. Alcalay
BackgroundPatients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).ObjectiveThe objective of this study was to evaluate skin α‐synuclein (αSyn) seeding activity as a biomarker for GD1‐related PD (GD1‐PD).MethodsThis single‐center study administered motor and cognitive examinations and questionnaires of nonmotor symptoms to adult patients
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Pilot Study of Acute Behavioral Effects of Pallidal Burst Stimulation in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-07-15 Saar Kariv, Jeong Woo Choi, Koorosh Mirpour, Ann M. Gordon, Amirreza Alijanpourotaghsara, Mohsen Benam, Ruwayd Abdalla, Sahil Chilukuri, Jianwen W. Gu, Hemant Bokil, Shruti Nanivadekar, Aryn H. Gittis, Nader Pouratian
BackgroundBurst‐patterned pallidal deep brain stimulation (DBS) in an animal model of Parkinson's disease (PD) yields significantly prolonged therapeutic benefit compared to conventional continuous DBS, but its value in patients remains unclear.ObjectivesThe aims were to evaluate the safety and tolerability of acute (<2 hours) burst DBS in PD patients and to evaluate preliminary clinical effectiveness
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Smartphone Voice Calls Provide Early Biomarkers of Parkinsonism in Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-07-13 Vojtěch Illner, Michal Novotný, Tomáš Kouba, Tereza Tykalová, Michal Šimek, Pavel Sovka, Jan Švihlík, Evžen Růžička, Karel Šonka, Petr Dušek, Jan Rusz
BackgroundSpeech dysfunction represents one of the initial motor manifestations to develop in Parkinson's disease (PD) and is measurable through smartphone.ObjectiveThe aim was to develop a fully automated and noise‐resistant smartphone‐based system that can unobtrusively screen for prodromal parkinsonian speech disorder in subjects with isolated rapid eye movement sleep behavior disorder (iRBD) in
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Clinical Trials in Times of War: A Testament to Human Resilience and Dedication Mov. Disord. (IF 7.4) Pub Date : 2024-07-11 Joaquim J. Ferreira, Olivier Rascol, Werner Poewe
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Diffusion Tensor Imaging‐Along the Perivascular‐Space Index Is Associated with Disease Progression in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-07-11 Kimberly H. Wood, Rodolphe Nenert, Aya M. Miften, George W. Kent, Madison Sleyster, Raima A. Memon, Allen Joop, Jennifer Pilkington, Adeel A. Memon, Riis N. Wilson, Corina Catiul, Jerzy Szaflarski, Amy W. Amara
BackgroundThe glymphatic clearance pathway is a waste clearance system that allows for removal of soluble proteins such as amyloid β (Aβ) from the brain. Higher Aβ levels are associated with cognitive dysfunction in Parkinson's disease (PD). Diffusion tensor imaging‐along the perivascular space (DTI‐ALPS) is an imaging measure proposed to indirectly measure glymphatic function.ObjectivesEvaluate differences
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Parkinson's Disease Progression and Exposure to Contaminated Water at Camp Lejeune Mov. Disord. (IF 7.4) Pub Date : 2024-07-11 Samuel M. Goldman, Frances M. Weaver, Beverly Gonzalez, Kevin T. Stroupe, Lishan Cao, Kalea Colletta, Ethan G. Brown, Caroline M. Tanner
BackgroundWe recently reported an increased risk of Parkinson's disease (PD) in service members who resided at Marine Base Camp Lejeune, North Carolina, when water supplies were contaminated with trichloroethylene and other volatile organic compounds (VOCs). Prior studies suggest that environmental exposures may affect PD phenotype or progression, but this has not been reported for VOCs.ObjectiveThe
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α‐Synuclein Seed Amplification Assays from Blood‐Based Extracellular Vesicles in Parkinson's Disease: An Evaluation of the Evidence Mov. Disord. (IF 7.4) Pub Date : 2024-07-11 Alexander Maximilian Bernhardt, Mojtaba Nemati, Fanni Annamária Boros, Franziska Hopfner, Johannes Levin, Brit Mollenhauer, Jürgen Winkler, Inga Zerr, Friederike Zunke, Günter Höglinger
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In Memoriam Mahlon R. DeLong (1938–2024) Mov. Disord. (IF 7.4) Pub Date : 2024-07-11 Thomas Wichmann, José A. Obeso
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Investigating the Brain Mechanisms of Externally Cued Sit‐to‐Stand Movement in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-07-10 Magda Mustile, Dimitrios Kourtis, Simon Ladouce, Martin G. Edwards, Daniele Volpe, Manuela Pilleri, Elisa Pelosin, David I. Donaldson, Magdalena Ietswaart
BackgroundOne of the more challenging daily‐life actions for Parkinson's disease patients is starting to stand from a sitting position. Parkinson's disease patients are known to have difficulty with self‐initiated movements and benefit from external cues. However, the brain processes underlying external cueing as an aid remain unknown. The advent of mobile electroencephalography (EEG) now enables the
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A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-07-08 Teije H. van Prooije, Maartje Pennings, Lucille Dorresteijn, Thatjana Gardeitchik, Vincent J.J. Odekerken, Mayke Oosterloo, Annie Pedersen, Corien C. Verschuuren‐Bemelmans, Alexander Vrancken, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg
BackgroundMonoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX‐STUB1/SCA48). Recently, a genetic interaction between STUB1 variants and intermediate or high‐normal CAG/CAA repeats in TBP was suggested, indicating digenic inheritance or a disease‐modifying role for TBP expansions.ObjectiveTo determine the presence and impact of intermediate or high‐normal TBP expansions
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Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant Mov. Disord. (IF 7.4) Pub Date : 2024-07-05 Yi‐Heng Zeng, Dan‐Dan Zuo, Zhi‐Qiang Wang, Jiting Zhu
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STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8 Mov. Disord. (IF 7.4) Pub Date : 2024-07-04 Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Ana Pedro‐Ibor, Teresa Jaijo, Andrea Del Valle‐Carranza, Irene Martínez‐Torres, Jose M. Millán, Luis Bataller, Elena Aller
BackgroundSpinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.ObjectivesWe aimed to further investigate the molecular background of patients with SCA8 diagnosis.MethodsPatients were selected
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In Memoriam Gregor K. Wenning (1964–2024) Mov. Disord. (IF 7.4) Pub Date : 2024-07-04 Werner Poewe, Horacio Kaufmann, Niall Quinn
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Prevalence of Late‐Stage Parkinson's Disease in the US Healthcare System: Insights from TriNetX Mov. Disord. (IF 7.4) Pub Date : 2024-07-04 Sol De Jesus, Annika Daya, Liba Blumberger, Mechelle M. Lewis, Doug Leslie, Samer D. Tabbal, Rachel Dokholyan, Amanda M. Snyder, Richard B. Mailman, Xuemei Huang
BackgroundPatients in late‐stage Parkinson's disease (PDLS) are caregiver‐dependent, have low quality of life, and higher healthcare costs.ObjectiveTo estimate the prevalence of PDLS patients in the current US healthcare system.MethodsWe downloaded the 2010–2022 data from the TriNetX Diamond claims network that consists of 92 US healthcare sites. PD was identified using standard diagnosis codes, and
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Gait Analysis and Magnetic Resonance Imaging Characteristics in Patients with Isolated Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-07-04 Elisabetta Sarasso, Andrea Gardoni, Sara Marelli, Roberta Balestrino, Lucia Zenere, Alessandra Castelnuovo, Massimo Malcangi, Silvia Basaia, Andrea Grassi, Andrea Tettamanti, Elisa Canu, Luigi Ferini‐Strambi, Massimo Filippi, Federica Agosta
BackgroundIsolated rapid eye movement sleep behavioral disorder (iRBD) can precede neurodegenerative diseases. There is an urgent need for biomarkers to aid early intervention and neuroprotection.ObjectiveThe aim is to assess quantitative motor, cognitive, and brain magnetic resonance imaging (MRI) characteristics in iRBD patients.MethodsThirty‐eight polysomnography‐confirmed iRBD patients and 28 age‐
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Navigating Visual Challenges: How Parkinson's Disease Alters Cognitive Priorities in Visual Search Mov. Disord. (IF 7.4) Pub Date : 2024-07-04 Sinem Balta Beylergil, Peggy Skelly, Ibrahim Quagraine, Camilla Kilbane, Fatema F. Ghasia, Aasef G. Shaikh
ObjectiveParkinson's disease (PD) hampers visual search tasks such as reading, driving, and navigation. We examined expectations from past experiences, guiding cognition and contextual priors, on visual search in PD.MethodsWe compared eye movements as PD and healthy participants searched for a hidden object (target) in cluttered real‐world scenes.ResultsPD participants prolonged fixation on high‐probability
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Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B Mov. Disord. (IF 7.4) Pub Date : 2024-07-01 David Pellerin, Jens Seemann, Andreas Traschütz, Bernard Brais, Winfried Ilg, Matthis Synofzik
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Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-06-29 Guillaume Cogan, Kensuke Daida, Kimberley J. Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurène Tissier, Eric LeGuern, Andrew B. Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
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Understanding REM Sleep Behavior Disorder through Functional MRI: A Systematic Review Mov. Disord. (IF 7.4) Pub Date : 2024-06-27 Lachlan Churchill, Yu‐Chi Chen, Simon J.G. Lewis, Elie Matar
Neuroimaging studies in rapid eye movement sleep behavior disorder (RBD) can inform fundamental questions about the pathogenesis of Parkinson's disease (PD). Across modalities, functional magnetic resonance imaging (fMRI) may be better suited to identify changes between neural networks in the earliest stages of Lewy body diseases when structural changes may be subtle or absent. This review synthesizes
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Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Fangxiao Xia, Chao Su
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Rethinking Parkinson's Disease: A Syndromic Perspective Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Amos D. Korczyn
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Reply to: “Rethinking Parkinson's Disease: A Syndromic Perspective” Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Tiago F. Outeiro, Angelo Antonini, Joaquim J. Ferreira
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The Role of the Motor Cortex in the Parkinsonian Tremor Network: Is it Time for an Upgrade? Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Giorgio Leodori, Marco Mancuso, Francesco Marchet, Daniele Belvisi
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Advantages and Challenges of Platform Trials for Disease Modifying Therapies in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Margherita Fabbri, Olivier Rascol, Tom Foltynie, Camille Carroll, Ronald B. Postuma, Raphael Porcher, Jean Christophe Corvol
Traditional drug development in Parkinson's disease (PD) faces significant challenges because of its protracted timeline and high costs. In response, innovative master protocols are emerging and designed to address multiple research questions within a single overarching protocol. These trials may offer advantages such as increased efficiency, agility in adding new treatment arms, and potential cost
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Defining the Importance of Minor Hallucinations in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Ruth B. Schneider, Kelly A. Mills, Melissa J. Nirenberg, Roseanne D. Dobkin, Gregory M. Pontone
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Reply to: Comment to “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies” Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar
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Gaps and Controversies in Catatonia as a Movement Disorder Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Abhishek Lenka, Vishal M. Perera, Alberto J. Espay, Gregory M. Pontone, Michael S. Okun
The term “catatonia” was introduced by German psychiatrist Karl Kahlbaum in 1874. Although historically tied to schizophrenia, catatonia exhibits a diverse range of phenotypes and has been observed in various medical and neuropsychiatric conditions. Its intrinsic movement characteristics and association with hypokinetic and hyperkinetic phenomenologies place catatonia within the purview of movement
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Comment to: “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies” Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Martin Paucar, Daniel Nilsson, Martin Engvall, José Laffita‐Mesa, Anna Wedell, Per Svenningsson
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Reply to: “Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions” Mov. Disord. (IF 7.4) Pub Date : 2024-06-26 Elisabetta Indelicato, Sylvia Boesch
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Mapping Motor Cortical Network Excitability and Connectivity Changes in De Novo Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-06-24 Giorgio Leodori, Maria Ilenia De Bartolo, Claudia Piervincenzi, Marco Mancuso, Abhineet Ojha, Matteo Costanzo, Flavia Aiello, Giorgio Vivacqua, Giovanni Fabbrini, Antonella Conte, Patrizia Pantano, Alfredo Berardelli, Daniele Belvisi
BackgroundTranscranial magnetic stimulation‐electroencephalography (TMS‐EEG) has demonstrated decreased excitability in the primary motor cortex (M1) and increased excitability in the pre‐supplementary motor area (pre‐SMA) in moderate‐advanced Parkinson's disease (PD).ObjectivesThe aim was to investigate whether these abnormalities are evident from the early stages of the disease, their behavioral
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Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders Mov. Disord. (IF 7.4) Pub Date : 2024-06-20 Juan Darío Ortigoza‐Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais
BackgroundBiallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69).ObjectiveThe aim was to provide insights into the clinical and genetic characteristics of ZBTB11‐related disorders (ZBTB11‐RD), with a particular emphasis on progressive complex movement abnormalities.MethodsThirteen new and 16 previously reported
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Abnormal Cerebrovascular Activity, Perfusion, and Glymphatic Clearance in Lewy Body Diseases Mov. Disord. (IF 7.4) Pub Date : 2024-05-31 Sephira G. Ryman, Andrei A. Vakhtin, Andrew R. Mayer, Harm Jan van der Horn, Nicholas A. Shaff, Stephanie R. Nitschke, Kayla R. Julio, Rawan M. Tarawneh, Gary A. Rosenberg, Shanna V. Diaz, Sarah E. Pirio Richardson, Henry C. Lin
Cerebrovascular activity is not only crucial to optimal cerebral perfusion, but also plays an important role in the glymphatic clearance of interstitial waste, including α‐synuclein. This highlights a need to evaluate how cerebrovascular activity is altered in Lewy body diseases. This review begins by discussing how vascular risk factors and cardiovascular autonomic dysfunction may serve as upstream
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Increased CSF DOPA Decarboxylase Correlates with Lower DaT‐SPECT Binding: Analyses in Biopark and PPMI Cohorts Mov. Disord. (IF 7.4) Pub Date : 2024-05-27 Shervin Khosousi, Andrea Sturchio, Ellen Appleton, Wojciech Paslawski, Michael Ta, Michael Nalls, Andrew B. Singleton, Hirotaka Iwaki, Per Svenningsson
BackgroundRecent studies identified increased cerebrospinal fluid (CSF) DOPA decarboxylase (DDC) as a promising biomarker for parkinsonian disorders, suggesting a compensation to dying dopaminergic neurons. A correlation with 123I‐FP‐CIT‐SPECT (DaT‐SPECT) imaging could shed light on this link.ObjectiveThe objective is to assess the relationship between CSF DDC levels and DaT‐SPECT binding values.MethodsA
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Role of Bβ1 overexpression in the pathogenesis of SCA12 Mov. Disord. (IF 7.4) Pub Date : 2024-05-27 Chengqian Zhou, Fan Tang, Tao Dong, Hans B. Liu, Leon Deng, Russell L. Margolis, Pan P. Li
BackgroundSpinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by a CAG/CTG repeat expansion at the PPP2R2B locus.ObjectiveWe investigated how the CAG repeat expansion within the PPP2R2B 7B7D transcript influences the expression of Bβ1 and a potential protein containing a long polyserine tract.MethodsTranscript and protein expression were measured using quantitative PCR (qPCR)
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Plasticity‐Induced Effects of Theta Burst Transcranial Ultrasound Stimulation in Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-05-24 Talyta Grippe, Yazan Shamli‐Oghli, Ghazaleh Darmani, Jean‐François Nankoo, Nasem Raies, Can Sarica, Tarun Arora, Carolyn Gunraj, Mandy Yi Rong Ding, Cricia Rinchon, Daniel G. DiLuca, Samuel Pichardo, Francisco Cardoso, Andres M. Lozano, Robert Chen
BackgroundLow‐intensity transcranial ultrasound stimulation (TUS) is a noninvasive brain stimulation (NIBS) technique with high spatial specificity. Previous studies showed that TUS delivered in a theta burst pattern (tbTUS) increased motor cortex (MI) excitability up to 30 minutes due to long‐term potentiation (LTP)–like plasticity. Studies using other forms of NIBS suggested that cortical plasticity
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A New Star in the Sky of Tic Pathophysiology: The Role of Astrocytes in Repetitive Motor Behaviors Mov. Disord. (IF 7.4) Pub Date : 2024-05-23 Christos Ganos, Anthony E. Lang, Izhar Bar‐Gad
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Association of Gene Expression and Tremor Network Structure Mov. Disord. (IF 7.4) Pub Date : 2024-05-21 Thomas Welton, Gabriel Chew, Aaron Shengting Mai, Jing Han Ng, Ling Ling Chan, Eng‐King Tan
BackgroundTranscriptomic changes in the essential tremor (ET)–associated cerebello‐thalamo‐cortical “tremor network” and their association to brain structure have not been investigated.ObjectiveThe aim was to characterize molecular changes associated with network‐level imaging‐derived phenotypes (IDP) found in ET.MethodsWe performed an imaging‐transcriptomic study in British adults using imaging‐genome‐wide
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Dysregulated Cerebrospinal Fluid Proteome of Spinocerebellar Ataxia Type 2 and its Clinical Implications Mov. Disord. (IF 7.4) Pub Date : 2024-05-21 Albert Stezin, Gajanan J. Sathe, Akshada Gajbhiye, Sujas Bharadwaj, Vivek Ghose, Anikha Bellad, Palash Kumar Malo, Vikram Holla, Shantala Hegde, Rose Dawn Bharath, Jitender Saini, Sanjeev Jain, Ravi Yadav, Akhilesh Pandey, Pramod Kumar Pal
BackgroundAbnormalities in ataxin‐2 associated with spinocerebellar ataxia type 2 (SCA2) may lead to widespread disruptions in the proteome. This study was performed to identify dysregulated proteome in SCA2 and to explore its clinical‐radiological correlations.MethodsCerebrospinal fluid (CSF) samples from 21 genetically confirmed SCA2 were subjected to shotgun proteome analysis using mass spectrometry
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THAP11 CAG Repeat Expansion Is Rare or Absent in the Taiwanese Cohort with Cerebellar Ataxia Mov. Disord. (IF 7.4) Pub Date : 2024-05-17 Cheng‐Tsung Hsiao, Nai‐Yi Liao, Yi‐Chu Liao, Yi‐Chung Lee
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Comment on “Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals” Mov. Disord. (IF 7.4) Pub Date : 2024-05-17 Oriane Trouillard, Aurélie Méneret, Margaux Dunoyer, Mohamed Doulazmi, Isabelle Dusart, Caroline Dubacq, Emmanuel Roze
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The Effect of taVNS at 25 Hz and 100 Hz on Parkinson's Disease Gait—A Randomized Motion Sensor Study Mov. Disord. (IF 7.4) Pub Date : 2024-05-17 Vesna van Midden, Urban Simončič, Zvezdan Pirtošek, Maja Kojović
BackgroundTranscutaneous electrostimulation of the auricular branch of the vagal nerve (taVNS) has the propensity to reach diffuse neuromodulatory networks, which are dysfunctional in Parkinson's disease (PD). Previous studies support the use of taVNS as an add‐on treatment for gait in PD.ObjectivesWe assessed the effect of taVNS at 25 Hz (taVNS25), taVNS at 100 Hz (taVNS100), and sham earlobe stimulation
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SNCA‐Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy Mov. Disord. (IF 7.4) Pub Date : 2024-05-14 Jianyuan Zhang, Yiming Liu, Cuiping Zhao
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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study Mov. Disord. (IF 7.4) Pub Date : 2024-05-10 Valentina De Giorgis, Kailash P. Bhatia, Odile Boespflug‐Tanguy, Domitille Gras, Adela Della Marina, Archana Desurkar, Manuel Toledo, Ian Miller, Michael Rotstein, Susanne A. Schneider, Daniel C. Tarquinio, Yvonne Weber, Melanie Brandabur, Jill Mayhew, Tony Koutsoukos, Darryl C. De Vivo
BackgroundParoxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets.ObjectivesThe objective was to evaluate the effectiveness and safety of triheptanoin in reducing the frequency of disabling movement disorders in patients with Glut1DS not receiving a ketogenic diet.MethodsUX007G‐CL301 was a randomized, double‐blind, placebo‐controlled
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Persistent GDNF Expression 45 Months after Putaminal Infusion of AAV2‐GDNF in a Patient with Parkinson's Disease Mov. Disord. (IF 7.4) Pub Date : 2024-05-08 John D. Heiss, Abhik Ray‐Chaudhury, David E. Kleiner, Debra J. Ehrlich, Gretchen Scott, Nancy A. Edwards, David S. Goldstein, Dima A. Hammoud, Piotr Hadaczek, Victor S. Van Laar, Shantelle A. Graff, Peter Herscovitch, Codrin Lungu, Mark Hallett, Russell R. Lonser, Kareem A. Zaghloul, Krystof S. Bankiewicz
ObjectiveGene therapy by convection‐enhanced delivery of type 2 adeno‐associated virus‐glial cell derived neurotrophic factor (AAV2‐GDNF) to the bilateral putamina seeks to increase GDNF gene expression and treat Parkinson's disease (PD).MethodsA 63‐year‐old man with advanced PD received AAV2‐GDNF in a clinical trial. He died from pneumonia after anterior cervical discectomy and fusion 45 months later