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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
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Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-03-22 Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo, Robert Kopajtich, Juliane Winkelmann, Holger Prokisch, Barbara Garavaglia, Michael Zech
The occurrence of disease-associated variants in “healthy” controls is a well-established characteristic of inherited movement disorders.1 A typical example of a pathogenic variant found in controls is TOR1A p.Glu303del underlying early-onset dystonia.2 There are several explanations for why variants linked to monogenic movement disorders can be present in catalogs of “normal” genetic variations. First
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FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change Mov. Disord. (IF 8.6) Pub Date : 2024-03-20 Andreas Traschütz, Zofia Fleszar, Holger Hengel, Thomas Klockgether, Friedrich Erdlenbruch, Björn H. Falkenburger, Thomas Klopstock, Özgür Öztop-Çakmak, José Luiz Pedroso, Filippo M. Santorelli, Ludger Schöls, , Matthis Synofzik
Patient-focused outcomes present a central need for trial-readiness across all ataxias. The Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL) captures functional impairment and longitudinal change but is only validated in Friedreich Ataxia.
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Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration Mov. Disord. (IF 8.6) Pub Date : 2024-03-20 Arti Saini, Vikram V. Holla, Divya Kalikavil Puthanveedu, Sahil Mehta, Arunmozhimaran Elavarasi, Kanchana Soman Pillai, Prachi Mohapatra, Riyanka Kumari, Shreya Bari, Inder Singh, Ajith Cherian, Syam Krishnan, Divya M. Radhakrishnan, Ayush Agarwal, Divyani Garg, Kanwaljeet Garg, Manmohan Singh, Ajay Garg, Babylakshmi Muthusamy, Vivek Lal, Asha Kishore, Pramod Kumar Pal, Achal Srivastava, Mohammed Faruq
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Randomized Phase I Trial of the α‐Synuclein Antibody Lu AF82422 Mov. Disord. (IF 8.6) Pub Date : 2024-03-18 Louise Buur, Jonas Wiedemann, Frank Larsen, Fayrouz Ben Alaya‐Fourati, Pekka Kallunki, Dorte Kornerup Ditlevsen, Mette Høgh Sørensen, Didier Meulien
BackgroundImmunotherapy targeting pathological α‐synuclein (α‐syn) species is a promising strategy for slowing disease progression in neurodegenerative synucleinopathies, including Parkinson's disease (PD).ObjectiveThe aim was to evaluate the safety, tolerability, pharmacokinetics, and target engagement of ascending doses of Lu AF82422.MethodsIn this first‐in‐human study (NCT03611569), healthy participants
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Contribution of MRI for the Early Diagnosis of Parkinsonism in Patients with Diagnostic Uncertainty Mov. Disord. (IF 8.6) Pub Date : 2024-03-16 Lydia Chougar, Alice Faucher, Johann Faouzi, François‐Xavier Lejeune, Gonçalo Gama Lobo, Carna Jovanovic, Florence Cormier, Gwendoline Dupont, Marie Vidailhet, Jean‐Christophe Corvol, Olivier Colliot, Stéphane Lehéricy, David Grabli, Bertrand Degos
BackgroundInternational clinical criteria are the reference for the diagnosis of degenerative parkinsonism in clinical research, but they may lack sensitivity and specificity in the early stages.ObjectivesTo determine whether magnetic resonance imaging (MRI) analysis, through visual reading or machine‐learning approaches, improves diagnostic accuracy compared with clinical diagnosis at an early stage
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A New Definition of Psychosis Is Needed in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Joseph H. Friedman
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Short‐Term Cannabidiol with Δ‐9‐Tetrahydrocannabinol in Parkinson's Disease: A Randomized Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Ying Liu, Jacquelyn Bainbridge, Stefan Sillau, Sarah Rajkovic, Michelle Adkins, Christopher H. Domen, John A. Thompson, Tristan Seawalt, Jost Klawitter, Cristina Sempio, Grace Chin, Lisa Forman, Michelle Fullard, Trevor Hawkins, Lauren Seeberger, Heike Newman, David Vu, Maureen Anne Leehey
BackgroundCannabis use is frequent in Parkinson's disease (PD), despite inadequate evidence of benefits and risks.ObjectiveThe aim is to study short‐term efficacy and tolerability of relatively high cannabidiol (CBD)/low Δ‐9‐tetrahydrocannabinol (THC) to provide preliminary data for a longer trial.MethodsPersons with PD with ≥20 on motor Movement Disorder Society Unified Parkinson's Disease Rating
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On‐Demand Cueing for Freezing of Gait in Parkinson's Disease: A Randomized Controlled Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-15 Demi Zoetewei, Talia Herman, Pieter Ginis, Luca Palmerini, Marina Brozgol, Pablo Cornejo Thumm, Alberto Ferrari, Eva Ceulemans, Eva Decaluwé, Jeffrey M. Hausdorff, Alice Nieuwboer
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Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) Mov. Disord. (IF 8.6) Pub Date : 2024-03-14 Kathy Dujardin, Céline Tard, Emily Diglé, Virginie Herlin, Eugénie Mutez, Jean‐Baptiste Davion, Anna Wissocq, Violette Delforge, Gregory Kuchcinski, Vincent Huin
BackgroundLittle is known about the impact of the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition.ObjectiveOur objective was to determine the frequency and severity of cognitive impairment in RFC1‐positive patients and describe the pattern of deficits.MethodsParticipants underwent a comprehensive neuropsychological assessment. Volume of the cerebellum and its lobules
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Longitudinal Free-Water Changes in Dementia with Lewy Bodies Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Shannon Y. Chiu, Robin Chen, Wei-en Wang, Melissa J. Armstrong, Bradley F. Boeve, Rodolfo Savica, Vijay Ramanan, Julie A. Fields, Neill Graff-Radford, Tanis J. Ferman, Kejal Kantarci, David E. Vaillancourt
Diffusion-weighted magnetic resonance imaging (dMRI) examines tissue microstructure integrity in vivo. Prior dementia with Lewy bodies (DLB) diffusion tensor imaging studies yielded mixed results.
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Striatal and Extrastriatal Monoaminergic Disruption in Progressive Supranuclear Palsy Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Jing‐Hong Ma, Chong Dong, Hong‐Wen Qiao, Olivier Barret, Gilles D. Tamagnan, Wei Mao, Er‐He Xu, Chun Zhang, Jie Lu, Piu Chan, Shu‐Ying Liu
BackgroundAs a biomarker targeting vesicular monoamine transporter 2 (VMAT2), 18F‐9‐fluoropropyldihydrotetrabenazine (18F‐FP‐DTBZ) positron emission tomography (PET) is highly accurate in diagnosing Parkinson's disease (PD) and assessing its severity. However, evidence is insufficient in patients with progressive supranuclear palsy (PSP).ObjectiveWe evaluated the striatal and extrastriatal monoaminergic
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Microglial Activation and Progression of Nigrostriatal Dysfunction in Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Kristian Stær, Alex Iranzo, Morten Gersel Stokholm, Victor S. Hvingelby, Erik Hvid Danielsen, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina B. Svendsen, Alicia Garrido, Dolores Vilas, Joan Santamaria, Arne Møller, Carles Gaig, David J. Brooks, Per Borghammer, Eduardo Tolosa, Nicola Pavese
BackgroundUsing 11C‐(R)‐PK11195‐PET, we found increased microglia activation in isolated REM sleep behavior disorder (iRBD) patients. Their role remains to be clarified.ObjectivesThe objective is to assess relationships between activated microglia and progression of nigrostriatal dysfunction in iRBD.MethodsFifteen iRBD patients previously scanned with 11C‐(R)‐PK11195 and 18F‐DOPA‐PET underwent repeat
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Trans‐Spinal Theta Burst Magnetic Stimulation in Parkinson's Disease and Gait Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-03-13 Janaína Reis Menezes, Glaucia Aline Nunes, Rafael Bernhart Carra, Juliana da Silva Simões, Davi Jorge Fontoura Solla, Jussan Rodrigues Oliveira, Manoel Jacobsen Teixeira, Marco Antônio Marcolin, Egberto Reis Barbosa, Clarice Tanaka, Daniel Ciampi de Andrade, Rubens Gisbert Cury
BackgroundGait disorders in patients with Parkinson's disease (PD) can become disabling with disease progression without effective treatment.ObjectivesTo investigate the efficacy of intermittent θ burst trans‐spinal magnetic stimulation (TsMS) in PD patients with gait and balance disorders.MethodsThis was a randomized, parallel, double‐blind, controlled trial. Active or sham TsMS was applied at third
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Effects of GPi DBS on Sensorimotor Integration in Dystonia: A Pilot ON/OFF Study Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Ana Paula Arantes, Nicole A. Zalasky, Ludymila Ribeiro Borges, Rachel E. Sondergaard, Davide Martino, Zelma H.T. Kiss
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Globus Pallidus Internus (GPi) Neuromodulation is Not Effective in Unverricht–Lundborg Disease to Control Myoclonia Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Gaëtan Poulen, Philippe Gélisse, Emilie Chan‐Seng, Pierre‐Olivier Moser, Pierre Genton, Arielle Crespel, Philippe Coubes
Unverricht–Lundborg disease (ULD), the most common and purest form of progressive myoclonus epilepsy (PME), follows an autosomal recessive transmission pattern, with onset typically between 8 and 13 years.1 Clinical outcomes can vary widely, ranging from minimal impairment to severe motor disability, including cases of bedridden patients.2 Bilateral globus pallidus internus (GPi) deep brain stimulation
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Abnormalities of the Descending Inhibitory Nociceptive Pathway in Functional Motor Disorders Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Giovanna Squintani, Christian Geroin, Alessia Pasquali, Eleonora Cavazzana, Alessia Segatti, Marianna Lippolis, Chiara Bonetto, Elena Antelmi, Michele Tinazzi
BackgroundPain is a common disabling non‐motor symptom affecting patients with functional motor disorders (FMD).ObjectiveWe aimed to explore ascending and descending nociceptive pathways with laser evoked potentials (LEPs) in FMD.MethodsWe studied a “bottom‐up and top‐down” noxious paradigm applying a conditioned pain modulation (CPM) protocol and recorded N2/P2 amplitude in 21 FMD and 20 controls
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Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Hannah L. Casey, Vrutangkumar V. Shah, Daniel Muzyka, James McNames, Mahmoud El‐Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson‐Kuhta, Jeremy D. Schmahmann, Liana S. Rosenthal, Susan Perlman, Christian Rummey, Fay B. Horak, Christopher M. Gomez
BackgroundProgressive loss of standing balance is a feature of Friedreich's ataxia (FRDA).ObjectivesThis study aimed to identify standing balance conditions and digital postural sway measures that best discriminate between FRDA and healthy controls (HC). We assessed test–retest reliability and correlations between sway measures and clinical scores.MethodsTwenty‐eight subjects with FRDA and 20 HC completed
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The Motor Dysfunction Seen in Isolated REM Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Cristina Simonet, Laura Pérez‐Carbonell, Miquel A. Galmés‐Ordinas, Brook F.R. Huxford, Harneek Chohan, Aneet Gill, Guy Leschziner, Andrew J. Lees, Anette Schrag, Alastair J. Noyce
BackgroundIsolated Rapid Eye Movement (REM) sleep Behavior Disorder (iRBD) requires quantitative tools to detect incipient Parkinson's disease (PD).MethodsA motor battery was designed and compared with the Movement Disorder Society‐Unified Parkinson's Disease Rating Scale part III (MDS‐UPDRS‐III) in people with iRBD and controls. This included two keyboard‐based tests (BRadykinesia Akinesia INcoordination
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ANO10‐Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Andona Milovanović, Ana Westenberger, Iva Stanković, Olivera Tamaš, Marija Branković, Ana Marjanović, Björn‐Hergen Laabs, Max Brand, Rajasumi Rajalingam, Connie Marras, Katja Lohmann, Vesna Branković, Ivana Novaković, Igor Petrović, Marina Svetel, Christine Klein, Vladimir S. Kostić, Natasa Dragašević‐Mišković
BackgroundBiallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX‐ANO10).MethodsFollowing the MDSGene protocol, we systematically investigated genotype–phenotype relationships in ATX‐ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.ResultsMost patients (>80%) had loss‐of‐function (LOF) variants. The most common
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Direct Current Stimulation of Prefrontal Cortex Is Not Effective in Progressive Supranuclear Palsy: A Randomized Trial Mov. Disord. (IF 8.6) Pub Date : 2024-03-12 Arianna Cappiello, Filomena Abate, Sarah Adamo, Maria Francesca Tepedino, Leandro Donisi, Carlo Ricciardi, Anna Rosa Avallone, Miriam Caterino, Sofia Cuoco, Maria Teresa Pellecchia, Marianna Amboni, Paolo Barone, Roberto Erro, Marina Picillo
BackgroundProgressive supranuclear palsy (PSP) is a rare 4R‐tauopathy. Transcranial direct current stimulation (tDCS) may improve specific symptoms.ObjectivesThis randomized, double‐blinded, sham‐controlled trial aimed at verifying the short‐, mid‐, and long‐term effect of multiple sessions of anodal tDCS over the left dorsolateral prefrontal cortex (DLPFC) cortex in PSP.MethodsTwenty‐five patients
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Optimizing Screening for Intrastriatal Interventions in Huntington's Disease Using Predictive Models Mov. Disord. (IF 8.6) Pub Date : 2024-03-11 Matthew J. Barrett, Ahmed Negida, Nitai Mukhopadhyay, Jin K. Kim, Huma Nawaz, Jefin Jose, Claudia Testa
BackgroundIntrastriatal delivery of potential therapeutics in Huntington's disease (HD) requires sufficient caudate and putamen volumes. Currently, volumetric magnetic resonance imaging is rarely done in clinical practice, and these data are not available in large research cohorts such as Enroll‐HD.ObjectiveThe objective of this study was to investigate whether predictive models can accurately classify
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The Phenotypic and Genotypic Spectrum of CSF1R‐Related Disorder in China Mov. Disord. (IF 8.6) Pub Date : 2024-03-11 Jingying Wu, Xin Cheng, Duxin Ji, Huiwen Niu, Songquan Yao, Xukun Lv, Jianqiang Wang, Ziyi Li, Haoran Zheng, Yuwen Cao, Feixia Zhan, Mengyuan Zhang, Wotu Tian, Xiaojun Huang, Xinghua Luan, Li Cao
BackgroundColony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated.ObjectiveThe objective of the study is to clarify the core features and influence factors of CRD patients in China.MethodsClinical and genetic‐related data of CRD patients in China were collected. Mini‐Mental
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Cortical Macro‐ and Microstructural Changes in Parkinson's Disease with Probable Rapid Eye Movement Sleep Behavior Disorder Mov. Disord. (IF 8.6) Pub Date : 2024-03-08 Jèssica Pardo, Victor Montal, Anna Campabadal, Javier Oltra, Carme Uribe, Ignacio Roura, Núria Bargalló, Maria J. Martí, Yaroslau Compta, Alex Iranzo, Juan Fortea, Carme Junqué, Bàrbara Segura
BackgroundEvidence regarding cortical atrophy patterns in Parkinson's disease (PD) with probable rapid eye movement sleep behavior disorder (RBD) (PD‐pRBD) remains scarce. Cortical mean diffusivity (cMD), as a novel imaging biomarker highly sensitive to detecting cortical microstructural changes in different neurodegenerative diseases, has not been investigated in PD‐pRBD yet.ObjectivesThe aim was
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Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia Mov. Disord. (IF 8.6) Pub Date : 2024-03-04 Thomas Wirth, Emmanuel Roze, Clarisse Delvallée, Oriane Trouillard, Nathalie Drouot, Philippe Damier, Clotilde Boulay, Marine Bourgninaud, Prasanthi Jegatheesan, Aude Sangare, Sylvie Forlani, Bertrand Gaymard, Remi Hervochon, Vincent Navarro, Nadège Calmels, Audrey Schalk, Christine Tranchant, Amélie Piton, Aurélie Méneret, Mathieu Anheim
BackgroundAlthough the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.ObjectiveThe aim is to identify the missing genetic causes of PKD.MethodsPhenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.ResultsWe identified four causative variants in KCNJ10, already associated
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Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase Mov. Disord. (IF 8.6) Pub Date : 2024-03-04 Micol Avenali, Silvia Cerri, Ilaria Palmieri, Gerardo Ongari, Rita Stiuso, Gabriele Buongarzone, Cristina Tassorelli, Tommaso Biagini, Marialuisa Valente, Cristina Cereda, Tommaso Mazza, Simone Gana, Claudio Pacchetti, Enza Maria Valente
BackgroundSNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival.ObjectivesTo clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD).MethodsGenetic diagnosis was reached through next‐generation sequencing.
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Bidirectional Interplay between Deep Brain Stimulation and Cognition in Parkinson's Disease: A Systematic Review Mov. Disord. (IF 8.6) Pub Date : 2024-03-02 Vibuthi Sisodia, Arjan Malekzadeh, Esmée Verwijk, P. Richard Schuurman, Rob M.A. de Bie, Bart E.K.S. Swinnen
BackgroundDeep brain stimulation (DBS) is efficacious for treating motor symptoms in Parkinson's disease (PD).ObjectivesThe aim is to evaluate the evidence regarding DBS effectiveness after postoperative cognitive deterioration, the impact of preoperative cognition on DBS effectiveness, and the impact of DBS on cognition.MethodsLiterature searches were performed on MEDLINE, EMBASE, and CENTRAL (Cochrane
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Care of Late-Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries Mov. Disord. (IF 8.6) Pub Date : 2024-02-29 Christopher Kruse, Anna Lipinski, Malte Verheyen, Monika Balzer-Geldsetzer, Michael Wittenberg, Stefan Lorenzl, Carmen Richinger, Christian Schmotz, Lars Tönges, Dirk Woitalla, Stephan Klebe, Bastiaan R. Bloem, Adrianus Hommel, Wassilios G. Meissner, Brice Laurens, Thomas Boraud, Alexandra Foubert-Samier, Sylvain Vergnet, François Tison, Nadège Costa, Per Odin, Kristina Rosqvist, Jenny M. Norlin, Frida
Parkinson's disease (PD) is a neurodegenerative disease that leads to progressive disability. Cost studies have mainly explored the early stages of the disease, whereas late-stage patients are underrepresented.
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A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity? Mov. Disord. (IF 8.6) Pub Date : 2024-02-29 Mariana H.G. Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci
Pathogenic variants in several genes encoding proteins associated with G-coupled protein receptors (GCPR), which are involved in the modulation of post-synaptic signalling and cyclic adenosine 3′,5′-monophosphate (cAMP) metabolism in striatal neurons, have been linked to hyperkinetic movement disorders, such as dystonia and chorea.1 GNAO1, encoding the G protein alpha subunit o (Gαo), is one of the
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Digital Gait Measures Capture 1‐Year Progression in Early‐Stage Spinocerebellar Ataxia Type 2 Mov. Disord. (IF 8.6) Pub Date : 2024-02-29 Jens Seemann, Lina Daghsen, Matthieu Cazier, Jean‐Charles Lamy, Marie‐Laure Welter, Martin A. Giese, Matthis Synofzik, Alexandra Durr, Winfried Ilg, Giulia Coarelli
BackgroundWith disease‐modifying drugs in reach for cerebellar ataxias, fine‐grained digital health measures are highly warranted to complement clinical and patient‐reported outcome measures in upcoming treatment trials and treatment monitoring. These measures need to demonstrate sensitivity to capture change, in particular in the early stages of the disease.ObjectiveOur aim is to unravel gait measures