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JMD Scientific Statements and Guidelines in the Early View area have been typeset, copyedited, and reviewed by the writing group or author, but they have not appeared in a print or online issue of the journal. In some cases, the statement or guideline may be revised before it is eventually published in print and online.

Each manuscript published online ahead of print is citable, with the official publication date being the date of the manuscript's first online posting. JMD papers are assigned Digital Object Identifiers (DOIs), providing a persistent, permanent way to identify manuscripts published in the online environment.

Original Articles
The Effect of Blood Lipids, Type 2 Diabetes, and Body Mass Index on Parkinson’s Disease: A Korean Mendelian Randomization Study
Kye Won Park, Yun Su Hwang, Seung Hyun Lee, Sungyang Jo, Sun Ju Chung
Received October 12, 2022  Accepted November 25, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22175    [Epub ahead of print]
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AbstractAbstract PDFSupplementary Material
Objective
Associations between various metabolic conditions and Parkinson’s disease (PD) have been previously identified in epidemiological studies. We aimed to investigate the causal effect of lipid levels, type 2 diabetes mellitus (T2DM), and body mass index (BMI) on PD in a Korean population via Mendelian randomization (MR).
Methods
Two-sample MR analyses were performed with inverse-variance weighted (IVW), weighted median, and MR-Egger regression approaches. We identified genetic variants associated with lipid concentrations, T2DM, and BMI in publicly available summary statistics, which were either collected from genome-wide association studies (GWASs) or from meta-analyses of GWAS that targeted only Korean individuals or East Asian individuals, including Korean individuals. The outcome dataset was a GWAS on PD performed in a Korean population.
Results
From previous GWASs and meta-analyses, we selected single nucleotide polymorphisms as the instrumental variables. Variants associated with serum levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides, as well as with T2DM and BMI, were selected (n = 11, 19, 17, 89, and 9, respectively). There were no statistically significant causal associations observed between the five exposures and PD using either the IVW, weighted median, or MR-Egger methods (p-values of the IVW method: 0.332, 0.610, 0.634, 0.275, and 0.860, respectively).
Conclusion
This study does not support a clinically relevant causal effect of lipid levels, T2DM, and BMI on PD risk in a Korean population.
Association of Depression With Early Occurrence of Postural Instability in Parkinson’s Disease
Yun Su Hwang, Sungyang Jo, Kye Won Park, Seung Hyun Lee, Sangjin Lee, Sun Ju Chung
Received June 16, 2022  Accepted September 30, 2022  Published online December 20, 2022  
DOI: https://doi.org/10.14802/jmd.22091    [Epub ahead of print]
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AbstractAbstract PDFSupplementary Material
Objective
Depression in Parkinson’s disease (PD) affects the quality of life of patients. Postural instability and gait disturbance are associated with the severity and prognosis of PD. We investigated the association of depression with axial involvement in early-stage PD patients.
Methods
This study involved 95 PD patients unexposed to antiparkinsonian drugs. After a baseline assessment for depression, the subjects were divided into a depressed PD group and a nondepressed PD group. Analyses were conducted to identify an association of depression at baseline with the following outcome variables: the progression to Hoehn and Yahr scale (H-Y) stage 3, the occurrence of freezing of gait (FOG), levodopa-induced dyskinesia, and wearing-off. The follow-up period was 53.40 ± 16.79 months from baseline.
Results
Kaplan–Meier survival curves for H-Y stage 3 and FOG showed more prominent progression to H-Y stage 3 and occurrences of FOG in the depressed PD group than in the nondepressed PD group (log-rank p = 0.025 and 0.003, respectively). Depression in drug-naïve, early-stage PD patients showed a significant association with the progression to H-Y stage 3 (hazard ratio = 2.55; 95% confidence interval = 1.32–4.93; p = 0.005), as analyzed by Cox regression analyses. In contrast, the occurrence of levodopa-induced dyskinesia and wearing-off did not differ between the two groups (log-rank p = 0.903 and 0.351, respectively).
Conclusion
Depression in drug-naïve, early-stage PD patients is associated with an earlier occurrence of postural instability. This suggests shared nondopaminergic pathogenic mechanisms and potentially enables the prediction of early development of postural instability.
Association Between Gait and Dysautonomia in Patients With De Novo Parkinson’s Disease: Forward Gait Versus Backward Gait
Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon
Received March 25, 2022  Accepted June 27, 2022  Published online September 7, 2022  
DOI: https://doi.org/10.14802/jmd.22045    [Epub ahead of print]
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AbstractAbstract PDF
Objective
Studies on gait and autonomic dysfunction have been insufficient so far, particularly de novo Parkinson’s disease (PD). The aim of this study was to identify the association between gait dynamics and autonomic dysfunction in patients with de novo PD.
Methods
A total 38 patients with de novo PD were retrospectively included in this study. Details of patients’ dysautonomia were assessed using the Scales for Outcomes in Parkinson’s Disease-Autonomic Dysfunction (SCOPA-AUT). For assessment of gait, a computerized gait analysis was performed using the GAITRite system for forward gait and backward gait. High SCOPA-AUT score (PD-HSAS) group and low SCOPA-AUT score (PD-LSAS) group were identified according to their SCOPA-AUT scores.
Results
Nineteen (50%) patients with high SCOPA-AUT scores above median value (12.5) were assigned into the PD-HSAS group and others were assigned to the PD-LSAS group. Compared with the PD-LSAS group, the PD-HSAS group exhibited slower gait, shorter stride, decreased cadence, increased double support phase, decreased swing phase, and increased variability in swing time. Total SCOPA-AUT score showed significantly positive correlations with gait variability and instability but a negative correlation with gait hypokinesia. In subdomain analysis, urinary dysautonomia was highly associated with impairment of gait dynamics. All significant results were found to be more remarkable in backward gait than in forward gait.
Conclusion
Our findings suggest that alteration in gait dynamics, especially backward gait, is highly associated with autonomic dysfunction in patients with de novo PD.
Review Articles
Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease
Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
Received August 24, 2022  Accepted October 29, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22141    [Epub ahead of print]
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AbstractAbstract PDF
Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1%–2% of the population over the age of 65. As the population ages, it is anticipated that the burden on society will significantly escalate. Although symptom reduction by currently available pharmacological and/or surgical treatments improves the quality of life of many PD patients, there are no treatments that can slow down, halt, or reverse disease progression. Because the loss of a specific cell type, midbrain dopamine neurons in the substantia nigra, is the main cause of motor dysfunction in PD, it is considered a promising target for cell replacement therapy. Indeed, numerous preclinical and clinical studies using fetal cell transplantation have provided proof of concept that cell replacement therapy may be a viable therapeutic approach for PD. However, the use of human fetal cells remains fraught with controversy due to fundamental ethical, practical, and clinical limitations. Groundbreaking work on human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, coupled with extensive basic research in the stem cell field offers promising potential for hPSC-based cell replacement to become a realistic treatment regimen for PD once several major issues can be successfully addressed. In this review, we will discuss the prospects and challenges of hPSC-based cell therapy for PD.
Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Received June 17, 2022  Accepted November 27, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22092    [Epub ahead of print]
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AbstractAbstract PDF
Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.
Multiple System Atrophy: Advances in Diagnosis and Therapy
Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito
Received May 28, 2022  Accepted August 28, 2022  Published online December 20, 2022  
DOI: https://doi.org/10.14802/jmd.22082    [Epub ahead of print]
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AbstractAbstract PDF
This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. Regarding pathogenesis, cutting-edge findings have accumulated on the interactions of α-synuclein, neuroinflammation, and oligodendroglia with neurons. In neuroimaging, introducing artificial intelligence, machine learning, and deep learning has notably improved diagnostic accuracy and individual analyses. Advancements in treatment have also been achieved, including immunotherapy therapy against α-synuclein and serotonin-targeted and mesenchymal stem cell therapies, which are thought to affect several aspects of the disease, including neuroinflammation. The accelerated progress in clarifying the pathogenesis of MSA over the past few years and the development of diagnostic techniques for detecting early-stage MSA are expected to facilitate the development of disease-modifying therapies for one of the most intractable neurodegenerative diseases.
Subjective Cognitive Complaints in Cognitively Normal Patients With Parkinson’s Disease: A Systematic Review
Jin Yong Hong, Phil Hyu Lee
Received April 15, 2022  Accepted August 15, 2022  Published online November 10, 2022  
DOI: https://doi.org/10.14802/jmd.22059    [Epub ahead of print]
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AbstractAbstract PDF
Subjective cognitive complaints (SCCs) refer to self-perceived cognitive decline and are related to objective cognitive decline. SCCs in cognitively normal individuals are considered a preclinical sign of subsequent cognitive impairment due to Alzheimer’s disease, and SCCs in cognitively normal patients with Parkinson’s disease (PD) are also gaining attention. The aim of this review was to provide an overview of the current research on SCCs in cognitively normal patients with PD. A systematic search found a lack of consistency in the methodologies used to define and measure SCCs. Although the association between SCCs and objective cognitive performance in cognitively normal patients with PD is controversial, SCCs appear to be predictive of subsequent cognitive decline. These findings support the clinical value of SCCs in cognitively normal status in PD; however, further convincing evidence from biomarker studies is needed to provide a pathophysiological basis for these findings. Additionally, a consensus on the definition and assessment of SCCs is needed for further investigations.
Case Report
A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen-Yang Lim
Received July 8, 2022  Accepted September 14, 2022  Published online December 20, 2022  
DOI: https://doi.org/10.14802/jmd.22109    [Epub ahead of print]
  • 177 View
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AbstractAbstract PDFSupplementary Material
KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
Letters to the editor
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder
Sahil Mehta, Vivek Lal
Received September 10, 2022  Accepted November 9, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22154    [Epub ahead of print]
  • 88 View
  • 7 Download
PDFSupplementary Material
First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
Hyoshin Son, Jihoon G. Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim
Received September 4, 2022  Accepted December 5, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22150    [Epub ahead of print]
  • 85 View
  • 8 Download
PDFSupplementary Material
Orthostatic Myoclonus as a Presentation of Hashimoto Encephalopathy
Hyunyoung Hwang, Jinse Park, Jeong Ik Eun, Kyong Jin Shin, Jongmok Ha, Jinyoung Youn
Received August 30, 2022  Accepted November 1, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22146    [Epub ahead of print]
  • 83 View
  • 10 Download
PDFSupplementary Material
Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India
Praveen Sharma, Vikram V Holla, Sandeep Gurram, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Received July 4, 2022  Accepted October 29, 2022  Published online January 12, 2023  
DOI: https://doi.org/10.14802/jmd.22106    [Epub ahead of print]
  • 148 View
  • 23 Download
PDFSupplementary Material
Task-Specific Drinking Tremor
Krisztina Benedek, Heidi Bryde Biernat, Carsten Eckhart Thomsen, Merete Bakke
Received July 1, 2022  Accepted August 15, 2022  Published online November 10, 2022  
DOI: https://doi.org/10.14802/jmd.22103    [Epub ahead of print]
  • 288 View
  • 22 Download
PDFSupplementary Material
Successful Treatment of Biphasic and Peak-dose Dyskinesia With Combined Unilateral Subthalamic Nucleus and Contralateral Globus Pallidus Interna Deep Brain Stimulation
Zhitong Zeng, Zhengyu Lin, Peng Huang, Halimureti Paerhati, Chencheng Zhang, Dianyou Li
Received May 20, 2022  Accepted August 12, 2022  Published online November 10, 2022  
DOI: https://doi.org/10.14802/jmd.22081    [Epub ahead of print]
  • 303 View
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PDFSupplementary Material
Brief communication
Validity and Reliability of the Korean-Translated Version of the International Cooperative Ataxia Rating Scale in Cerebellar Ataxia
Jinse Park, Jin Whan Cho, Jinyoung Youn, Engseok Oh, Wooyoung Jang, Joong-Seok Kim, Yoon-Sang Oh, Hyungyoung Hwang, Chang-Hwan Rhu, Jin-Young Ahn, Jee-Young Lee, Seong-Beom Koh, Jae H. Park, Hee-Tae Kim
Received August 16, 2022  Accepted October 4, 2022  Published online December 20, 2022  
DOI: https://doi.org/10.14802/jmd.22137    [Epub ahead of print]
  • 178 View
  • 18 Download
AbstractAbstract PDFSupplementary Material
Objective
The International Cooperative Ataxia Rating Scale (ICARS) is a semiquantitative clinical scale for ataxia that is widely used in numerous countries. The purpose of this study was to investigate the validity and reliability of the Korean-translated version of the ICARS.
Methods
Eighty-eight patients who presented with cerebellar ataxia were enrolled. We investigated the construct validity using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). We also investigated the internal consistency using Cronbach’s α and intrarater and interrater reliability using intraclass correlation coefficients.
Results
The Korean-translated ICARS showed satisfactory construct validity using EFA and CFA. It also revealed good interrater and intrarater reliability and showed acceptable internal consistency. However, subscale 4 for assessing oculomotor disorder showed moderate internal consistency.
Conclusion
This is the first report to investigate the validity and reliability of the Korean-translated ICARS. Our results showed excellent construct and convergent validity. The reliability is also acceptable.

JMD : Journal of Movement Disorders