- Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
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Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky
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J Mov Disord. 2023;16(3):321-324. Published online June 13, 2023
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DOI: https://doi.org/10.14802/jmd.23074
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- Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 variants are also associated with other movement disorders. We present the case of a woman with type 1 Gaucher disease who developed acute dystonia and parkinsonism at 35 years of age during a recombinant enzyme infusion treatment. She developed severe dystonia in all extremities and a bilateral pill-rolling tremor that did not respond to levodopa treatment. Despite the abrupt onset of symptoms, neither Sanger nor whole genome sequencing revealed pathogenic variants in ATP1A3 associated with rapid-onset dystonia-parkinsonism (RDP). Further examination showed hyposmia and presynaptic dopaminergic deficits in [18F]-DOPA PET, which are commonly seen in PD but not in RDP. This case extends the spectrum of movement disorders reported in patients with GBA1 mutations, suggesting an intertwined phenotype.
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- Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways
Nicole Calakos, Michael Zech Movement Disorders.2025; 40(1): 7. CrossRef - Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky American Journal of Medical Genetics Part A.2024;[Epub] CrossRef - In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin Frontiers in Neuroscience.2024;[Epub] CrossRef
- The Supplementary Motor Complex in Parkinson’s Disease
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Shervin Rahimpour, Shashank Rajkumar, Mark Hallett
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J Mov Disord. 2022;15(1):21-32. Published online November 25, 2021
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DOI: https://doi.org/10.14802/jmd.21075
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- Parkinson’s disease (PD) is a neurodegenerative disorder characterized by both motor and nonmotor symptoms. Although the basal ganglia is traditionally the primary brain region implicated in this disease process, this limited view ignores the roles of the cortex and cerebellum that are networked with the basal ganglia to support motor and cognitive functions. In particular, recent research has highlighted dysfunction in the supplementary motor complex (SMC) in patients with PD. Using the PubMed and Google Scholar search engines, we identified research articles using keywords pertaining to the involvement of the SMC in action sequencing impairments, temporal processing disturbances, and gait impairment in patients with PD. A review of abstracts and full-text articles was used to identify relevant articles. In this review of 63 articles, we focus on the role of the SMC in PD, highlighting anatomical and functional data to create new perspectives in understanding clinical symptoms and, potentially, new therapeutic targets. The SMC has a nuanced role in the pathophysiology of PD, with both hypo- and hyperactivation associated with various symptoms. Further studies using more standardized patient populations and functional tasks are needed to more clearly elucidate the role of this region in the pathophysiology and treatment of PD.
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- Reliability, Concurrent Validity, Responsiveness and Measurement Error of the Portuguese Version of Comprehensive Motor Coordination Scale in Individuals With Parkinson's Disease
Clara Rezende Rocha, Caroline Rodrigues Osawa, Maria Eduarda Salum Aveiro Henrique, Pedro Henrique Sousa de Andrade, Luciane Aparecida Pascucci Sande de Souza, Gustavo José Luvizutto Physiotherapy Research International.2025;[Epub] CrossRef - Grey matter volume differences across Parkinson’s disease motor subtypes in the supplementary motor cortex
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Tomáš Dominik, Alfred Mele, Aaron Schurger, Uri Maoz Neuroscience & Biobehavioral Reviews.2024; 157: 105503. CrossRef - Neural correlates of fine motor grasping skills: Longitudinal insights into motor cortex activation using fNIRS
Xiaoli Li, Minxia Jin, Nan Zhang, Wei Hongman, LianHui Fu, Qi Qi Brain and Behavior.2024;[Epub] CrossRef - Affection of Motor Network Regions by Tau Pathology Across the Alzheimer's Disease Spectrum
Gérard N. Bischof, Elena Jaeger, Kathrin Giehl, Merle C. Hönig, Peter H. Weiss, Alexander Drzezga eneuro.2024; 11(1): ENEURO.0242-23.2023. CrossRef - Parkinson’s Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function
Thomas Welton, Thomas Wei Jun Teo, Ling Ling Chan, Eng-King Tan, Louis Chew Seng Tan Journal of Parkinson’s Disease.2024; 14(4): 713. CrossRef - HD-tDCS over left supplementary motor area differentially modulated neural correlates of motor planning for speech vs. limb movement
Fatemeh Tabari, Celeste Patron, Hope Cryer, Karim Johari International Journal of Psychophysiology.2024; 201: 112357. CrossRef - Addressing the sources of inter-subject variability in E-field parameters in anodal tDCS stimulation over motor cortical network
Pablo Franco-Rosado, M Amparo Callejón, Javier Reina-Tosina, Laura M Roa, Juan F Martin-Rodriguez, Pablo Mir Physics in Medicine & Biology.2024; 69(14): 145013. CrossRef - Cortical networks of parkinsonian gait: a metabolic and functional connectivity study
Franziska Pellegrini, Nicoló G. Pozzi, Chiara Palmisano, Giorgio Marotta, Andreas Buck, Stefan Haufe, Ioannis U. Isaias Annals of Clinical and Translational Neurology.2024; 11(10): 2597. CrossRef - Combining Transcranial Direct Current Stimulation with Exercise to Improve Mobility, Stability, and Tremor Management in 25 Individuals with Parkinson’s Disease
Fabrício D. de Almeida, Yiyu Wang, Rodrigo C. de Mello Pedreiro, Ana Carolina B. Brizzi, Shirley F. Campos, Melina P. Sales, Deanna M. Kennedy, Osmar Pinto Neto Neurology International.2024; 16(6): 1223. CrossRef - Static and Dynamic Functional Network Connectivity in Parkinson's Disease Patients With Postural Instability and Gait Disorder
Bo Shen, Qun Yao, Yixuan Zhang, Yinyin Jiang, Yaxi Wang, Xu Jiang, Yang Zhao, Haiying Zhang, Shuangshuang Dong, Dongfeng Li, Yaning Chen, Yang Pan, Jun Yan, Feng Han, Shengrong Li, Qi Zhu, Daoqiang Zhang, Li Zhang, Yun‐cheng Wu CNS Neuroscience & Therapeutics.2024;[Epub] CrossRef - Functional anatomy of the subthalamic nucleus and the pathophysiology of cardinal features of Parkinson’s disease unraveled by focused ultrasound ablation
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Diego Alonzo Rodríguez-Méndez, Daniel San-Juan, Mark Hallett, Chris G. Antonopoulos, Erick López-Reynoso, Ricardo Lara-Ramírez PeerJ.2022; 10: e13602. CrossRef - Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease
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- The Relationship between Saccades and Locomotion
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Anshul Srivastava, Omar F. Ahmad, Christopher Pham Pacia, Mark Hallett, Codrin Lungu
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J Mov Disord. 2018;11(3):93-106. Published online August 9, 2018
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DOI: https://doi.org/10.14802/jmd.18018
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- Human locomotion involves a complex interplay among multiple brain regions and depends on constant feedback from the visual system. We summarize here the current understanding of the relationship among fixations, saccades, and gait as observed in studies sampling eye movements during locomotion, through a review of the literature and a synthesis of the relevant knowledge on the topic. A significant overlap in locomotor and saccadic neural circuitry exists that may support this relationship. Several animal studies have identified potential integration nodes between these overlapping circuitries. Behavioral studies that explored the relationship of saccadic and gait-related impairments in normal conditions and in various disease states are also discussed. Eye movements and locomotion share many underlying neural circuits, and further studies can leverage this interplay for diagnostic and therapeutic purposes.
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- Multifocal Myoclonus as a Manifestation of Acute Cerebral Infarction Recovered by Carotid Arterial Stenting
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Hyangkyoung Kim, Jun Soo Byun, Mark Hallett, Hae-Won Shin
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J Mov Disord. 2017;10(1):64-66. Published online January 18, 2017
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DOI: https://doi.org/10.14802/jmd.16040
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- Deep brain stimulation versus vagus nerve stimulation for the motor function of poststroke hemiplegia: study protocol for a multicentre randomised controlled trial
Junpeng Xu, Bin Liu, Guosong Shang, Shuzhen Liu, Zhebin Feng, Yanyang Zhang, Haonan Yang, Di Liu, Qing Chang, Chen Yuhan, Xinguang Yu, Zhiqi Mao BMJ Open.2024; 14(10): e086098. CrossRef - Movement Disorders Associated With Cerebral Artery Stenosis: A Nationwide Study
Kye Won Park, Nari Choi, Eungseok Oh, Chul Hyoung Lyoo, Min Seok Baek, Han-Joon Kim, Dalla Yoo, Jee-Young Lee, Ji-Hyun Choi, Jae Hyeok Lee, Seong-Beom Koh, Young Hee Sung, Jin Whan Cho, Hui-Jun Yang, Jinse Park, Hae-Won Shin, Tae-Beom Ahn, Ho-Sung Ryu, So Frontiers in Neurology.2022;[Epub] CrossRef
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Jung E Park, Vesper Fe Marie L. Ramos, Mark Hallett
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J Mov Disord. 2016;9(2):124-125. Published online March 2, 2016
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DOI: https://doi.org/10.14802/jmd.15054
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- Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Direction
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Hyun Joo Cho, Mark Hallett
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J Mov Disord. 2016;9(2):55-62. Published online May 25, 2016
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DOI: https://doi.org/10.14802/jmd.16014
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Abstract
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- Focal hand dystonia (FHD) is characterized by excessive and unwanted muscle activation in both the hand and arm resulting in impaired performance in particular tasks. Understanding the pathophysiology of FHD has progressed significantly for several decades and this has led to consideration of other potential therapies such as non-invasive brain stimulation (NIBS). A number of studies have been conducted to develop new therapy for FHD using transcranial magnetic stimulation and transcranial direct current stimulation. In this paper, we review previous studies and describe the potential therapeutic use of NIBS for FHD. We also discuss the future direction of NIBS to treat FHD.
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Claudia Carrarini, Chiara Pappalettera, Domenica Le Pera, Paolo Maria Rossini Frontiers in Human Neuroscience.2025;[Epub] CrossRef - Differential induction of Parieto-motor plasticity in writer's cramp and cervical dystonia
Hyun Joo Cho, Hae-Won Shin, Pattamon Panyakaew, Panagiotis Kassavetis, Traian Popa, Tianxia Wu, Giorgio Leodori, Terance Camacho, Shivangi Singh, Sabine Meunier, Mark Hallett Neurobiology of Disease.2024; 202: 106724. CrossRef - Transcranial magnetic stimulation: the road to clinical therapy for dystonia
Patrick J. Mulcahey, Angel V. Peterchev, Nicole Calakos, Noreen Bukhari-Parlakturk Dystonia.2023;[Epub] CrossRef - Treatment of writer’s cramp based on current pathophysiological concepts
Kirsten E. Zeuner, Alexander Baumann, Karsten Witt Dystonia.2023;[Epub] CrossRef - The Technical Ability and Performing Scale (TAPS): A newly developed patient-reported functional rating scale for Musician's focal dystonia
Marina Ramella, Rosa Maria Converti, Giulia Giacobbi, Anna Castagna, Enrico Saibene, Francesca Borgnis, Francesca Baglio Parkinsonism & Related Disorders.2022; 99: 79. CrossRef - Effects of non-invasive brain stimulation in dystonia: a systematic review and meta-analysis
Jordan Morrison-Ham, Gillian M. Clark, Elizabeth G. Ellis, Andris Cerins, Juho Joutsa, Peter G. Enticott, Daniel T. Corp Therapeutic Advances in Neurological Disorders.2022;[Epub] CrossRef - Botulinum neurotoxin for writer’s cramp
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Kristina Simonyan, Julie Barkmeier-Kraemer, Andrew Blitzer, Mark Hallett, John F. Houde, Teresa Jacobson Kimberley, Laurie J. Ozelius, Michael J. Pitman, Robert Mark Richardson, Nutan Sharma, Kristine Tanner, Gerald Berke, Tanya Eadie, Jeremy Greenlee, Mi Neurology.2021; 96(21): 989. CrossRef - Treatment of focal hand dystonia: current status
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Micol Avenali, R. De Icco, M. Tinazzi, G. Defazio, L. Tronconi, G. Sandrini, C. Tassorelli Parkinsonism & Related Disorders.2018; 54: 17. CrossRef - Transcranial Direct Current Stimulation Combined with Action Observation and Electromyographic Biofeedback Training in a Patient with Writer’s Cramp
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Gaetana Chillemi, Caterina Formica, Adriana Salatino, Alessandro Calamuneri, Paolo Girlanda, Francesca Morgante, Demetrio Milardi, Carmen Terranova, Alberto Cacciola, Angelo Quartarone, Raffaella Ricci Journal of the International Neuropsychological Society.2018; 24(1): 22. CrossRef - Evidence-based guidelines on the therapeutic use of transcranial direct current stimulation (tDCS)
Jean-Pascal Lefaucheur, Andrea Antal, Samar S. Ayache, David H. Benninger, Jérôme Brunelin, Filippo Cogiamanian, Maria Cotelli, Dirk De Ridder, Roberta Ferrucci, Berthold Langguth, Paola Marangolo, Veit Mylius, Michael A. Nitsche, Frank Padberg, Ulrich Pa Clinical Neurophysiology.2017; 128(1): 56. CrossRef - Research Priorities in Limb and Task-Specific Dystonias
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L. Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H. A. Jinnah, Teresa J. Kimberley, Codrin Lungu, Joel S. Perlmutter, Cecília N. Prudente, Mark Hallett Frontiers in Neurology.2017;[Epub] CrossRef - Transcranial Direct Current Stimulation as an Alternative Treatment in Patients with Alzheimer's Disease
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R. Erro, M. Tinazzi, F. Morgante, K. P. Bhatia European Journal of Neurology.2017; 24(10): 1228. CrossRef - Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study
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- Reorganization of the Human Somatosensory Cortex in Hand Dystonia
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Maria Jose Catalan, Kenji Ishii, William Bara-Jimenez, Mark Hallett
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J Mov Disord. 2012;5(1):5-8.
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DOI: https://doi.org/10.14802/jmd.12002
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Background and Purpose:
Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET) can be use to demonstrate functional localization of receptive fields.
Methods:
A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H215O PET.
Results:
The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished.
Conclusions:
These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.
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- Laminar VASO fMRI in focal hand dystonia patients
Laurentius Huber, Panagiotis Kassavetis, Omer Faruk Gulban, Mark Hallett, Silvina G. Horovitz Dystonia.2023;[Epub] CrossRef - Sensory Alterations in Patients with Isolated Idiopathic Dystonia: An Exploratory Quantitative Sensory Testing Analysis
Lejla Paracka, Florian Wegner, Christian Blahak, Mahmoud Abdallat, Assel Saryyeva, Dirk Dressler, Matthias Karst, Joachim K. Krauss Frontiers in Neurology.2017;[Epub] CrossRef
- The Sequence Effect in De Novo Parkinson’s Disease
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Suk Yun Kang, Toshiaki Wasaka, Ejaz A. Shamim, Sungyoung Auh, Yoshino Ueki, Nguyet Dang, Mark Hallett
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J Mov Disord. 2011;4(1):38-40.
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DOI: https://doi.org/10.14802/jmd.11006
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Background and Purpose
The sequence effect (SE) in Parkinson’s disease (PD) denotes progressive slowness in speed or progressive decrease in amplitude of repetitive movements. It is a well-known feature of bradykinesia and is considered unique in PD. Until now, it was well-documented in advanced PD, but not in drug-naïve PD. The aim of this study is to know whether the SE can also be measured in drug-naïve PD.
Methods
We measured the SE with a computer-based, modified Purdue pegboard in 4 drug-naïve PD patients, which matched our previous study with advanced PD patients.
Results
We observed progressive slowness during movement, that is, SE. Statistical analysis showed a strong statistical trend toward the SE with the right hand, but no significance with the left hand. There was no statistical significance of SE with either the more or less affected hands.
Conclusions
These results indicate that the SE can be identified in drug-naïve PD, as well as in advanced PD, with objective measurements and support the idea that the SE is a feature in PD observed during the early stage of the disease without medication.
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Luca Marsili, Kevin R. Duque, Nathan Gregor, Elhusseini Abdelghany, Jesus Abanto, Andrew P. Duker, Matthew C. Hagen, Alberto J. Espay, Matteo Bologna Movement Disorders.2023; 38(3): 496. CrossRef - The Sequence Effect Worsens Over Time in Parkinson’s Disease and Responds to Open and Closed-Loop Subthalamic Nucleus Deep Brain Stimulation
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