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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Abstract PDF Supplementary Material: 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.

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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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.

Citations

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A new model for freedom of movement using connectomic analysis
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Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease
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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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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
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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
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The Technical Ability and Performing Scale (TAPS): A newly developed patient-reported functional rating scale for Musician's focal dystonia
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Effects of non-invasive brain stimulation in dystonia: a systematic review and meta-analysis
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New modalities and directions for dystonia care
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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
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Lasting Effects of Low-Frequency Repetitive Transcranial Magnetic Stimulation in Writer’s Cramp: A Case Report
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Yohei Okada, Chiharu Shibamoto, Yukari Osumi, Chihiro Asano, Riho Takeuchi, Sachio Nabeshima, Shu Morioka, Koji Shomoto
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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

Citations to this article as recorded by

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.

Citations

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Matteo Bologna, Giulia Paparella, Alfonso Fasano, Mark Hallett, Alfredo Berardelli
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Sequence Effect in Parkinson’s Disease Is Related to Motor Energetic Cost
Sule Tinaz, Ajay S. Pillai, Mark Hallett
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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
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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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