Journal of Movement Disorders

Case Report

Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease: Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky; J Mov Disord. 2023;16(3):321-324. Published online June 13, 2023; 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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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

Review Articles

The Supplementary Motor Complex in Parkinson’s Disease: Shervin Rahimpour, Shashank Rajkumar, Mark Hallett; J Mov Disord. 2022;15(1):21-32. Published online November 25, 2021; DOI: https://doi.org/10.14802/jmd.21075

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Abstract PDF

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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Su Yan, Jun Lu, Yuanhao Li, Tian Tian, Yiran Zhou, Hongquan Zhu, Yuanyuan Qin, Wenzhen Zhu
Journal of Neuroradiology.2024; 51(4): 101155. CrossRef
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Tomáš Dominik, Alfred Mele, Aaron Schurger, Uri Maoz
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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
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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;[Epub] CrossRef
Sensorimotor network connectivity correlates with motor improvement after repetitive transcranial magnetic stimulation in patients with Parkinson's disease
Shumei Chi, Xinrui Wen, Yang Yu, Guanjun Wang, Jie Zhang, Chuang Xue, Xiaoying Zhang, Zheng Wang, Meiduo Gesang, Jiefang Chen, Sha Wu, Man Jin, Jian Liu, Benyan Luo
Parkinsonism & Related Disorders.2023; 106: 105218. CrossRef
A new model for freedom of movement using connectomic analysis
Diego Alonzo Rodríguez-Méndez, Daniel San-Juan, Mark Hallett, Chris G. Antonopoulos, Erick López-Reynoso, Ricardo Lara-Ramírez
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Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease
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npj Parkinson's Disease.2022;[Epub] CrossRef

The Relationship between Saccades and Locomotion: Anshul Srivastava, Omar F. Ahmad, Christopher Pham Pacia, Mark Hallett, Codrin Lungu; J Mov Disord. 2018;11(3):93-106. Published online August 9, 2018; DOI: https://doi.org/10.14802/jmd.18018

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Abstract PDF Supplementary Material

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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Ronny Bergmann, Keisuke Sehara, Sina E. Dominiak, Jens Kremkow, Matthew E. Larkum, Robert N. S. Sachdev
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Maja Klarendic, Diego Kaski
European Journal of Neuroscience.2021; 53(7): 2344. CrossRef
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Cécile Gallea, Benoit Wicki, Claire Ewenczyk, Sophie Rivaud-Péchoux, Lydia Yahia-Cherif, Pierre Pouget, Marie Vidailhet, Elodie Hainque
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Ken-ichi Okada, Mizuki Takahira, Tomoo Mano, Taichi Uga, Kuni Konaka, Koichi Hosomi, Youichi Saitoh
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Letter to the editor

Multifocal Myoclonus as a Manifestation of Acute Cerebral Infarction Recovered by Carotid Arterial Stenting: Hyangkyoung Kim, Jun Soo Byun, Mark Hallett, Hae-Won Shin; J Mov Disord. 2017;10(1):64-66. Published online January 18, 2017; DOI: https://doi.org/10.14802/jmd.16040

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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

Review Article

Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Direction: Hyun Joo Cho, Mark Hallett; J Mov Disord. 2016;9(2):55-62. Published online May 25, 2016; DOI: https://doi.org/10.14802/jmd.16014

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Abstract PDF

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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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; 15: 175628642211381. CrossRef
Botulinum neurotoxin for writer’s cramp
Divyani Garg, Suvorit S. Bhowmick, Jacky Ganguly, Shivam O. Mittal, Rupam Borgohain, Prashanth L. Kukkle
Annals of Movement Disorders.2022; 5(3): 159. CrossRef
New modalities and directions for dystonia care
Genko Oyama, Nobutaka Hattori
Journal of Neural Transmission.2021; 128(4): 559. CrossRef
Taakspecifieke focale dystonie bij musici
T. DOOMS
Tijdschrift voor Geneeskunde.2021;[Epub] CrossRef
Laryngeal Dystonia
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
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Navnika Gupta, Sanjay Pandey
Neurological Sciences.2021; 42(9): 3561. CrossRef
Alterations of Interhemispheric Functional Connectivity and Degree Centrality in Cervical Dystonia: A Resting-State fMRI Study
Wenyan Jiang, Yiwu Lei, Jing Wei, Lu Yang, Shubao Wei, Qiong Yin, Shuguang Luo, Wenbin Guo
Neural Plasticity.2019; 2019: 1. CrossRef
Update On Current and Emerging Therapies for Dystonia
Karlo J Lizarraga, Duha Al-Shorafat, Susan Fox
Neurodegenerative Disease Management.2019; 9(3): 135. CrossRef
Lasting Effects of Low-Frequency Repetitive Transcranial Magnetic Stimulation in Writer’s Cramp: A Case Report
Antonino Naro, Luana Billeri, Simona Portaro, Placido Bramanti, Rocco Salvatore Calabrò
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Anna Sadnicka, Katja Kornysheva, John C. Rothwell, Mark J. Edwards
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Micol Avenali, R. De Icco, M. Tinazzi, G. Defazio, L. Tronconi, G. Sandrini, C. Tassorelli
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Yohei Okada, Chiharu Shibamoto, Yukari Osumi, Chihiro Asano, Riho Takeuchi, Sachio Nabeshima, Shu Morioka, Koji Shomoto
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Bettina Balint, Niccolò E. Mencacci, Enza Maria Valente, Antonio Pisani, John Rothwell, Joseph Jankovic, Marie Vidailhet, Kailash P. Bhatia
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Stereotactic Lesioning of the Thalamic Vo Nucleus for the Treatment of Writer's Cramp (Focal Hand Dystonia)
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Biased Visuospatial Attention in Cervical Dystonia
Gaetana Chillemi, Caterina Formica, Adriana Salatino, Alessandro Calamuneri, Paolo Girlanda, Francesca Morgante, Demetrio Milardi, Carmen Terranova, Alberto Cacciola, Angelo Quartarone, Raffaella Ricci
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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
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Transcranial Direct Current Stimulation as an Alternative Treatment in Patients with Alzheimer's Disease
Yeo Jin Kim
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Non‐invasive brain stimulation for dystonia: therapeutic implications
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
Sara Marceglia, Simona Mrakic-Sposta, Manuela Fumagalli, Roberta Ferrucci, Francesca Mameli, Maurizio Vergari, Sergio Barbieri, Alberto Priori
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Letter to the editor

Tremor in a Bassoonist: Tremor in Dystonia or Essential Tremor?: Jung E Park, Vesper Fe Marie L. Ramos, Mark Hallett; J Mov Disord. 2016;9(2):124-125. Published online March 2, 2016; DOI: https://doi.org/10.14802/jmd.15054

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Original Articles

Reorganization of the Human Somatosensory Cortex in Hand Dystonia: Maria Jose Catalan, Kenji Ishii, William Bara-Jimenez, Mark Hallett; J Mov Disord. 2012;5(1):5-8.; DOI: https://doi.org/10.14802/jmd.12002

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Abstract PDF

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.

Citations

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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: Suk Yun Kang, Toshiaki Wasaka, Ejaz A. Shamim, Sungyoung Auh, Yoshino Ueki, Nguyet Dang, Mark Hallett; J Mov Disord. 2011;4(1):38-40.; DOI: https://doi.org/10.14802/jmd.11006

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Abstract PDF

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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Matteo Bologna, Giulia Paparella, Alfonso Fasano, Mark Hallett, Alfredo Berardelli
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Sule Tinaz, Kiran Para, Ana Vives-Rodriguez, Valeria Martinez-Kaigi, Keerthana Nalamada, Mine Sezgin, Dustin Scheinost, Michelle Hampson, Elan D. Louis, R. Todd Constable
Frontiers in Human Neuroscience.2018;[Epub] CrossRef
Sequence Effect in Parkinson’s Disease Is Related to Motor Energetic Cost
Sule Tinaz, Ajay S. Pillai, Mark Hallett
Frontiers in Neurology.2016;[Epub] CrossRef
Bradykinesia in early and advanced Parkinson's disease
Matteo Bologna, Giorgio Leodori, Paola Stirpe, Giulia Paparella, Donato Colella, Daniele Belvisi, Alfonso Fasano, Giovanni Fabbrini, Alfredo Berardelli
Journal of the Neurological Sciences.2016; 369: 286. CrossRef
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Eeksung Lee, Ji Eun Lee, Kwangsun Yoo, Jin Yong Hong, Jungsu Oh, Mun Kyung Sunwoo, Jae Seung Kim, Yong Jeong, Phil Hyu Lee, Young Ho Sohn, Suk Yun Kang
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