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Association of Gene Expression and Tremor Network Structure Mov. Disord. (IF 8.6) 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 8.6) 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 8.6) 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 8.6) 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 8.6) 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 8.6) 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 8.6) 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 8.6) 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
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Detection of α‐Synuclein in Oral Mucosa by Seed Amplification Assay in Synucleinopathies and Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-05-08 Yuanchu Zheng, Zhenwei Yu, Huihui Cai, Wenyi Kou, Chen Yang, Siming Li, Ning Zhang, Tao Feng
ObjectiveEvidence of abnormal α‐synuclein (α‐Syn) deposition in the brain is required for definitive diagnosis of synucleinopathies, which remains challenging. The seed amplification assay (SAA) is an innovative technique that can detect the seeding activity of misfolded α‐Syn, enabling the amplification and detection of minute quantities of pathogenic α‐Syn aggregates. This study aimed to evaluate
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Continuous Levodopa Delivery with an Intraoral Micropump System: An Open‐Label Pharmacokinetics and Clinical Study Mov. Disord. (IF 8.6) Pub Date : 2024-05-03 C. Warren Olanow, Deborah McIntyre, Michele Matarazzo, Mika Leinonen, Andrew McGarry, Cornelia Kamp, Julie Kennedy, Margherita Torti, Rejko Kruger, José A. Obeso, Fabrizio Stocchi, Ephraim Heller, Karl Kieburtz
BackgroundDouble‐blind studies have demonstrated that motor complications in Parkinson's disease (PD) can be reduced with continuous delivery of levodopa. The DopaFuse system is a novel, intraoral micropump that attaches to a retainer and uses a propellant to deliver levodopa/carbidopa (LD/CD) continuously into the mouth.ObjectivesEvaluate the safety, pharmacokinetics, and efficacy of LD/CD delivered
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Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients Mov. Disord. (IF 8.6) Pub Date : 2024-05-02 Berta Alemany‐Perna, Jordi Tamarit, Elisa Cabiscol, Fabien Delaspre, Albert Miguela, Joana Maria Huertas‐Pons, Ana Quiroga‐Varela, Miguel Merchan Ruiz, Daniel López Domínguez, Lluís Ramió i Torrentà, David Genís, Joaquim Ros
BackgroundCalcitriol, the active form of vitamin D (also known as 1,25‐dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA).ObjectivesBased on these results, we aimed measuring the effects of a calcitriol dose of 0.25 mcg/24h in the neurological function and frataxin levels when administered to FRDA patients for a year.Methods20
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Subthalamic Nucleus Stimulation Modulates Cognitive Theory of Mind in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-05-02 Haoyun Xiao, Liqin Lang, Zheng Ye, Jianjun Wu
BackgroundTheory of mind (ToM), the ability to infer others' mental state, is essential for social interaction among human beings. It has been widely reported that both cognitive (inference of knowledge) and affective (inference of emotion) components of ToM are disrupted in Parkinson's disease (PD). Previous studies usually focused on the involvement of the prefrontal cortex.ObjectiveThis study investigated
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Genetic Determined Iron Starvation Signature in Friedreich's Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-04-30 Manuel Grander, David Haschka, Elisabetta Indelicato, Christian Kremser, Matthias Amprosi, Wolfgang Nachbauer, Benjamin Henninger, Ambra Stefani, Birgit Högl, Christine Fischer, Markus Seifert, Stefan Kiechl, Günter Weiss, Sylvia Boesch
BackgroundEarly studies in cellular models suggested an iron accumulation in Friedreich's ataxia (FA), yet findings from patients are lacking.ObjectivesThe objective is to characterize systemic iron metabolism, body iron storages, and intracellular iron regulation in FA patients.MethodsIn FA patients and matched healthy controls, we assessed serum iron parameters, regulatory hormones as well as the
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Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome Mov. Disord. (IF 8.6) Pub Date : 2024-04-30 Serena Galosi, Cecilia Mancini, Anna Commone, Paolo Calligari, Viviana Caputo, Francesca Nardecchia, Claudia Carducci, Lambertus P. van den Heuvel, Simone Pizzi, Alessandro Bruselles, Marcello Niceta, Simone Martinelli, Richard J. Rodenburg, Marco Tartaglia, Vincenzo Leuzzi
BackgroundThe MRPS36 gene encodes a recently identified component of the 2‐oxoglutarate dehydrogenase complex (OGDHC), a key enzyme of the Krebs cycle catalyzing the oxidative decarboxylation of 2‐oxoglutarate to succinyl‐CoA. Defective OGDHC activity causes a clinically variable metabolic disorder characterized by global developmental delay, severe neurological impairment, liver failure, and early‐onset
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Differential Synaptic Loss in β‐Amyloid Positive Versus β‐Amyloid Negative Corticobasal Syndrome Mov. Disord. (IF 8.6) Pub Date : 2024-04-27 Negin Holland, George Savulich, P. Simon Jones, David J. Whiteside, Duncan Street, Peter Swann, Michelle Naessens, Maura Malpetti, Young T. Hong, Tim D. Fryer, Timothy Rittman, Eoin Mulroy, Franklin I. Aigbirhio, Kailash P. Bhatia, John T. O'Brien, James B. Rowe
Background/ObjectiveThe corticobasal syndrome (CBS) is a complex asymmetric movement disorder, with cognitive impairment. Although commonly associated with the primary 4‐repeat‐tauopathy of corticobasal degeneration, clinicopathological correlation is poor, and a significant proportion is due to Alzheimer's disease (AD). Synaptic loss is a pathological feature of many clinical and preclinical tauopathies
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Isolated REM Sleep without Atonia Is Not Equivalent to REM Sleep Behavior Disorder in Early‐Stage Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-26 Pauline Dodet, Marion Houot, Smaranda Leu‐Semenescu, Rahul Gaurav, Graziella Mangone, Jean‐Christophe Corvol, Stéphane Lehéricy, Marie Vidailhet, Emmanuel Roze, Isabelle Arnulf
BackgroundIn early‐stage Parkinson's disease (PD), rapid eye movement (REM) sleep behavior disorder (RBD) predicts poor cognitive and motor outcome. However, the baseline significance and disease evolution associated with isolated REM sleep without atonia (iRWA, ie, enhanced muscle tone during 8.7% of REM sleep, but no violent behavior) are not well understood.ObjectivesThe objective is to determine
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Reply to: Comment on: A Transatlantic Viewpoint on the Role of Pallidal Stimulation for Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Alexandra Boogers, Alfonso Fasano
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Comment on: “A Transatlantic Viewpoint on the Role of Pallidal Stimulation for Parkinson's Disease” Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Tao Xie, Peter C. Warnke
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Recurrence of Parkinson's Disease Tremor after Focused Ultrasound Thalamotomy? Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Halil Onder
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White Matter Microstructural Underpinnings of Mild Behavioral Impairment in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Oury Monchi, Gabriel D. Pinilla‐Monsalve, Hannes Almgren, Maryam Ghahremani, Mekale Kibreab, Nadia Maarouf, Iris Kathol, Arnaud Boré, François Rheault, Maxime Descoteaux, Zahinoor Ismail
BackgroundPatients with Parkinson's disease (PD) experience changes in behavior, personality, and cognition that can manifest even in the initial stages of the disease. Previous studies have suggested that mild behavioral impairment (MBI) should be considered an early marker of cognitive decline. However, the precise neurostructural underpinnings of MBI in early‐ to mid‐stage PD remain poorly understood
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Reply to: Recurrence of Parkinson's Disease Tremor after Focused Ultrasound Thalamotomy? Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 James Peters, Joel Maamary, Kain Kyle, Nick Olsen, Lyndsey Jones, Samuel Bolitho, Yael Barnett, Benjamin Jonker, Stephen Tisch
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Autosomal Dominant Parkinson's Disease Caused by SNCA p.E46K Mutation in a Family with Russian Ancestry Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Konstantin Senkevich, Irina Miliukhina, Alexandr Zhuravlev, Maria Shumilova, Mariia Beletskaia, Tatiana Skvortsova, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Ziv Gan‐Or, Anton Emelyanov, Sofya Pchelina
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Rapid Compensation for Noisy Voluntary Movements in Adults with Primary Tic Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-04-25 Lille Kurvits, Max‐Philipp Stenner, Siqi Guo, Wolf‐Julian Neumann, Patrick Haggard, Christos Ganos
BackgroundIt has been proposed that tics and premonitory urges in primary tic disorders (PTD), like Tourette syndrome, are a manifestation of sensorimotor noise. However, patients with tics show no obvious movement imprecision in everyday life. One reason could be that patients have strategies to compensate for noise that disrupts performance (ie, noise that is task‐relevant).ObjectivesOur goal was
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Detecting Misfolded α‐Synuclein in Blood Years before the Diagnosis of Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-23 Annika Kluge, Eva Schaeffer, Josina Bunk, Michael Sommerauer, Sinah Röttgen, Claudia Schulte, Benjamin Roeben, Anna‐Katharina von Thaler, Julius Welzel, Ralph Lucius, Sebastian Heinzel, Wei Xiang, Gerhard W. Eschweiler, Walter Maetzler, Ulrike Suenkel, Daniela Berg
BackgroundIdentifying individuals with Parkinson's disease (PD) already in the prodromal phase of the disease has become a priority objective for opening a window for early disease‐modifying therapies.ObjectiveThe aim was to evaluate a blood‐based α‐synuclein seed amplification assay (α‐syn SAA) as a novel biomarker for diagnosing PD in the prodromal phase.MethodsIn the TREND study (University of Tuebingen)
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Adult‐Onset Dystonia and Hypertrophic Cardiomyopathy in Patient with a De Novo 16q12.2q21 Deletion Mov. Disord. (IF 8.6) Pub Date : 2024-04-23 Shaochen Qin, Yifeng Li, Yanjing Li, Yiwen Wu
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Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-04-22 Ian H. Harding, Muhammad Ikhsan Nur Karim, Louisa P. Selvadurai, Louise A. Corben, Martin B. Delatycki, Serena Monti, Francesco Saccà, Nellie Georgiou‐Karistianis, Sirio Cocozza, Gary F. Egan
BackgroundThe dentate nuclei of the cerebellum are key sites of neuropathology in Friedreich ataxia (FRDA). Reduced dentate nucleus volume and increased mean magnetic susceptibility, a proxy of iron concentration, have been reported by magnetic resonance imaging studies in people with FRDA. Here, we investigate whether these changes are regionally heterogeneous.MethodsQuantitative susceptibility mapping
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Long‐Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non‐Degenerative Dystonia: A Cohort Study and a Meta‐Analysis Mov. Disord. (IF 8.6) Pub Date : 2024-04-22 Valentina Duga, Riccardo Giossi, Luigi Michele Romito, Mario Stanziano, Vincenzo Levi, Celeste Panteghini, Giovanna Zorzi, Nardo Nardocci
BackgroundThe evidence in the effectiveness of deep brain stimulation in children with medication‐refractory non‐degenerative monogenic dystonia is heterogeneous and long‐term results are sparse.ObjectivesThe objective is to describe long‐term outcomes in a single‐center cohort and compare our results with a meta‐analysis cohort form literature.MethodsWe performed a retrospective single‐center cohort
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Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant Mov. Disord. (IF 8.6) Pub Date : 2024-04-21 Elena Freri, Laura Canafoglia, Claudia Ciaccio, Davide Rossi Sebastiano, Davide Caputo, Roberta Solazzi, Francesca L. Sciacca, Maria Iascone, Ferruccio Panzica, Tiziana Granata, Silvana Franceschetti, Nardo Nardocci
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Bilateral Simultaneous Magnetic Resonance–Guided Focused Ultrasound Pallidotomy for Life‐Threatening Status Dystonicus Mov. Disord. (IF 8.6) Pub Date : 2024-04-20 Vincenzo Levi, Mario Stanziano, Carmela Pinto, Federica Zibordi, Davide Fedeli, Valentina Caldiera, Roberto Cilia, Nico Golfrè Andreasi, Arianna Braccia, Carla Carozzi, Elisa Ciceri, Marina Grisoli, Marco Gemma, Vittoria Nazzi, Francesco DiMeco, Roberto Eleopra, Giovanna Zorzi
BackgroundInvasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug‐resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD.ObjectiveThe aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance–guided focused ultrasound
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Yeast Prion Protein Sup35 Initiates α‐Synuclein Pathology in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-17 Youcui Wang, Hui Li, Ning Song, Junxia Xie
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Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Lindsey M. Vogt, Kathryn Yang, Gabriel Tse, Vicente Quiroz, Zainab Zaman, Laura Wang, Rasha Srouji, Amy Tam, Elicia Estrella, Shannon Manzi, Alfonso Fasano, Weston T. Northam, Scellig Stone, Mahendranath Moharir, Hernan Gonorazky, Brian McAlvin, Monica Kleinman, Kerri L. LaRovere, Carolina Gorodetsky, Darius Ebrahimi‐Fakhari
Status dystonicus is the most severe form of dystonia with life‐threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre–status dystonicus and status dystonicus), as well as refractory status dystonicus in children. This guideline provides a stepwise approach to assessment, triage, interdisciplinary
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Magnetic Resonance‐Guided Focused Ultrasound (MRgFUS)‐Thalamotomy for Essential Tremor: Lesion Location and Clinical Outcomes Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Alana Arcadi, Iciar Aviles‐Olmos, Lain Hermes Gonzalez‐Quarante, Arantza Gorospe, Adolfo Jiménez‐Huete, Marta Macías de la Corte, Olga Parras, Antonio Martin‐Bastida, Mario Riverol, Rafael Villino, Jorge Guridi, Maria C. Rodríguez‐Oroz
BackgroundFactors predicting clinical outcomes after MR‐guided focused ultrasound (MRgFUS)‐thalamotomy in patients with essential tremor (ET) are not well known.ObjectiveTo examine the clinical outcomes and their relationship with patients' baseline demographic and clinical features and lesion characteristics at 6‐month follow‐up in ET patients.MethodsA total of 127 patients were prospectively evaluated
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Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism Mov. Disord. (IF 8.6) Pub Date : 2024-04-15 Joshua Laß, Theresa Lüth, Kathleen Schlüter, Susen Schaake, Björn‐Hergen Laabs, Christoph Much, Roland Dominic Jamora, Raymond L. Rosales, Gerard Saranza, Cid Czarina E. Diesta, Christopher E. Pearson, Inke R. König, Norbert Brüggemann, Christine Klein, Ana Westenberger, Joanne Trinh
BackgroundX‐Linked dystonia‐parkinsonism (XDP) is an adult‐onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) were recently found within the TAF1 SVA repeat tract and were shown to associate with repeat stability and age at onset in XDP, specifically the AGGG [5′‐SINE‐VN
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GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-04-13 Eliza M. Brody, Yunji Seo, EunRan Suh, Noor Amari, Whitney G. Hartstone, R. Tyler Skrinak, Hanwen Zhang, Maria E. Diaz‐Ortiz, Daniel Weintraub, Thomas F. Tropea, Vivianna M. Van Deerlin, Alice S. Chen‐Plotkin
BackgroundThe GPNMB single‐nucleotide polymorphism rs199347 and GBA1 variants both associate with Lewy body disorder (LBD) risk. GPNMB encodes glycoprotein nonmetastatic melanoma protein B (GPNMB), a biomarker for GBA1‐associated Gaucher's disease.ObjectiveThe aim of this study was to determine whether GPNMB levels (1) differ in LBD with and without GBA1 variants and (2) associate with rs199347 genotype
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Conjugal Synucleinopathies: A Clinicopathologic Study Mov. Disord. (IF 8.6) Pub Date : 2024-04-10 Charles H. Adler, Matthew Halverson, Nan Zhang, Holly A. Shill, Erika Driver‐Dunckley, Shyamal H. Mehta, Alireza Atri, John N. Caviness, Geidy E. Serrano, David R. Shprecher, Christine M. Belden, Marwan N. Sabbagh, Kathy Long, Thomas G. Beach
BackgroundWhile preclinical studies have shown that alpha‐synuclein can spread through cell‐to‐cell transmission whether it can be transmitted between humans is unknown.ObjectivesThe aim was to assess the presence of a synucleinopathy in autopsied conjugal couples.MethodsNeuropathological findings in conjugal couples were categorized as Parkinson's disease (PD), dementia with Lewy bodies (DLB), Alzheimer's
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Cervical Dystonia Caused by Variant of ATP13A2 Responsive to Subthalamic Deep Brain Stimulation Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Mingming Zhao, Xin Yan, Lin Wang, Feng Yin
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Bodily Maps of Symptoms and Emotions in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Kalle J. Niemi, Annu Huovinen, Elina Jaakkola, Enrico Glerean, Lauri Nummenmaa, Juho Joutsa
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Clinical Utility of Tectal Plate Measurements on Magnetic Resonance Imaging in Progressive Supranuclear Palsy Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Abigail Amrami, Neha Atulkumar Singh, Farwa Ali, Nha Trang Thu Pham, Yehkyoung C. Stephens, Keith A. Josephs, Jennifer L. Whitwell
BackgroundMidbrain atrophy is a characteristic feature of progressive supranuclear palsy (PSP), observed in PSP‐Richardson's syndrome (PSP‐RS) and to a lesser extent PSP‐parkinsonism (PSP‐P).ObjectiveOur aim was to critically evaluate the utility of manual magnetic resonance imaging measurements of the midbrain tectal plate as a diagnostic biomarker in PSP.MethodsLength of the tectal plate and width
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A Novel PINK1 p.F385S Loss‐of‐Function Mutation in an Indian Family with Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-04-08 Karan Sharma, Asha Kishore, Anna Lechado‐Terradas, Raffaele Passannanti, Francesco Raimondi, Marc Sturm, Ashwin Ashok Kumar Sreelatha, Divya Kalikavila Puthenveedu, Gangadhara Sarma, Nicolas Casadei, Rejko Krüger, Thomas Gasser, Philipp Kahle, Olaf Riess, Julia C. Fitzgerald, Manu Sharma
BackgroundMost Parkinson's disease (PD) loci have shown low prevalence in the Indian population, highlighting the need for further research.ObjectiveThe aim of this study was to characterize a novel phosphatase tensin homolog‐induced serine/threonine kinase 1 (PINK1) mutation causing PD in an Indian family.MethodsExome sequencing of a well‐characterized Indian family with PD. A novel PINK1 mutation
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Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-04-06 Rauan Kaiyrzhanov, Juan Darío Ortigoza‐Escobar, Brett W. Stringer, Manizha Ganieva, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al‐Shammari, Mohammed Al‐Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri
BackgroundBased on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3).ObjectivesWe aim to comprehensively investigate CA8‐related disorders (CA8‐RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular
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Basic Science in Movement Disorders: Fueling the Engine of Translation into Clinical Practice Mov. Disord. (IF 8.6) Pub Date : 2024-04-04 Tiago F. Outeiro, Lorraine V. Kalia, Erwan Bezard, Juan Ferrario, Chin-Hsien Lin, Mohamed Salama, David G. Standaert, Lolade Taiwo, Ryosuke Takahashi, Miquel Vila, Brit Mollenhauer, Per Svenningsson
Basic Science is crucial for the advancement of clinical care for Movement Disorders. Here, we provide brief updates on how basic science is important for understanding disease mechanisms, disease prevention, disease diagnosis, development of novel therapies and to establish the basis for personalized medicine. We conclude the viewpoint by a call to action to further improve interactions between clinician
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De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures Mov. Disord. (IF 8.6) Pub Date : 2024-04-05 Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Joanna Blackburn, Nicholas E.F. Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J. Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci
BackgroundFRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities.ObjectivesWe describe 2 patients presenting with childhood‐onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co‐expression network analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain.MethodsTrio‐based
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Idiopathic Rapid Eye Movement Sleep Behavior Disorder (iRBD) Shares Similar Fecal Short‐Chain Fatty Acid Alterations with Multiple System Atrophy (MSA) and Parkinson's Disease (PD) Mov. Disord. (IF 8.6) Pub Date : 2024-04-02 Juanjuan Du, Pingchen Zhang, Yuyan Tan, Chao Gao, Jin Liu, Maoxin Huang, Hongxia Li, Xin Shen, Pei Huang, Shengdi Chen
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Correction to “Management of Impulse Control and Related Disorders in Parkinson's Disease: An Expert Consensus” Mov. Disord. (IF 8.6) Pub Date : 2024-03-30
Debove I, Paschen S, Amstutz D, et al. Management of Impulse Control and Related Disorders in Parkinson's Disease: An Expert Consensus. Mov Disord 2024;39(2):235–248. https://doi.org/10.1002/mds.29700 The above article was published with the incorrect article category of ‘MDS Commissioned Review’. The correct article category is ‘Review’. The online version of the article has been corrected. We apologize
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Re‐emergent Tremor in Parkinson's Disease: Evidence of Pathologic β and Prokinetic γ Activity Mov. Disord. (IF 8.6) Pub Date : 2024-03-27 Hao Ding, Bahman Nasseroleslami, Daniela Mirzac, Ioannis Ugo Isaias, Jens Volkmann, Günther Deuschl, Sergiu Groppa, Muthuraman Muthuraman
BackgroundRe‐emergent tremor is characterized as a continuation of resting tremor and is often highly therapy refractory. This study examines variations in brain activity and oscillatory responses between resting and re‐emergent tremors in Parkinson's disease.MethodsForty patients with Parkinson's disease (25 males, mean age, 66.78 ± 5.03 years) and 40 age‐ and sex‐matched healthy controls were included
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Contribution of Nutritional, Lifestyle, and Metabolic Risk Factors to Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-03-27 Nicola Veronese, Andrea Nova, Teresa Fazia, Emilia Riggi, Lin Yang, Laura Piccio, Bo‐Huei Huang, Matthew Ahmadi, Mario Barbagallo, Maria Notarnicola, Gianluigi Giannelli, Giovanni De Pergola, Emmanuel Stamatakis, Emanuele Cereda, Luisa Bernardinelli, Luigi Fontana
BackgroundModifiable risk factors for Parkinson's disease (PD) are poorly known.ObjectivesThe aim is to evaluate independent associations of different nutritional components, physical activity, and sedentary behavior and metabolic factors with the risk of PD.MethodsIn this population‐based prospective cohort study using the data of the United Kingdom Biobank (from 2006–2010), 502,017 men and women
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Unilateral Magnetic Resonance Imaging–Guided Laser Interstitial Thermal Therapy Thalamotomy for Essential Tremor Mov. Disord. (IF 8.6) Pub Date : 2024-03-27 Mickael Aubignat, Mélissa Tir, Martial Ouendo, Salem Boussida, Jean‐Marc Constans, Michel Lefranc
BackgroundEssential tremor (ET) affects numerous adults, impacting quality of life (QOL) and often defying pharmacological treatment. Surgical interventions like deep brain stimulation (DBS) and lesional approaches, including radiofrequency, gamma‐knife radiosurgery, and magnetic resonance imaging (MRI)–guided focused ultrasound, offer solutions but are not devoid of limitations.ObjectivesThis retrospective
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Alterations of Peripheral Lymphocyte Subsets in Isolated Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-26 Yuanchu Zheng, Yatong Li, Huihui Cai, Wenyi Kou, Chen Yang, Siming Li, Jiawei Wang, Ning Zhang, Tao Feng
BackgroundAdaptive immune dysfunction may play a crucial role in Parkinson's disease (PD) development. Isolated rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of synucleinopathies, including PD. Elucidating the peripheral adaptive immune system is crucial in iRBD, but current knowledge remains limited.ObjectiveThis study aimed to characterize peripheral lymphocyte
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SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies Mov. Disord. (IF 8.6) Pub Date : 2024-03-25 Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar
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Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant Mov. Disord. (IF 8.6) Pub Date : 2024-03-25 Elisabetta Indelicato, Sylvia Boesch, Michael Zech
We read with great interest the letter by Romito and colleagues.1 The authors described an individual with early-onset combined dystonia carrying the variant c.1528G > A (p.Glu510Lys) in the anoctamin-3-encoding gene ANO3 (OMIM*610110). The patient displayed an underrecognized chorea-dominant presentation in early life, which evolved into a movement disorder predominated by dystonia during adulthood
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Reply to: “Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant” Mov. Disord. (IF 8.6) Pub Date : 2024-03-25 Luigi M. Romito, Valentina Leta, Barbara Garavaglia, Celeste Panteghini, Giovanna Zorzi, Antonio E. Elia, Fabiana Colucci, Miryam Carecchio, Roberto Eleopra
We thank Indelicato and colleagues for reporting the phenotypic evolution of an additional patient with early-onset combined dystonia carrying the ANO3 variant c.1528G > A (p.Glu510Lys)1 and for highlighting the need to unravel the mechanisms underpinning the heterogeneous expressivity of neurodevelopmental movement disorders. These rare conditions are often misdiagnosed, emphasizing the necessity