Most-download articles are from the articles published in 2022 during the last three month.
Original Article
- Analysis of Semiology, Lesion Topography and Treatment Outcomes: A Prospective Study on Post Thalamic Stroke Holmes Tremor
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Amlan Kusum Datta, Adreesh Mukherjee, Sudeshna Malakar, Atanu Biswas
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J Mov Disord. 2024;17(1):71-81. Published online October 20, 2023
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DOI: https://doi.org/10.14802/jmd.23095
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Abstract
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- Objective
Holmes tremor (HT) comprises rest, postural and intention tremor subtypes, usually involving both proximal and distal musculature. Perturbations of nigro-striatal pathways might be fundamental in the pathogenesis of HT along with cerebello-thalamic connections.
Methods
Nine patients with an HT phenotype secondary to thalamic stroke were included. Epidemiological and clinical records were obtained. Structural and functional brain imaging were performed with magnetic resonance imaging (MRI) or computed tomography (CT) and positron emission tomography (PET), respectively. Levodopa was administered in sequentially increasing dosage, with various other drugs in case of inadequate response. Longitudinal follow-up was performed for at least three months. The essential tremor rating assessment scale (TETRAS) was used for assessment.
Results
The mean latency from stroke to tremor onset was 50.4 ± 30.60 days (range 21–90 days). Dystonia was the most frequently associated hyperkinetic movement (88.8%). Tremor was bilateral in 22.2% of participants. Clinical response was judged based on a reduction in the TETRAS score by a prefixed value (≥ 30%), pertaining to which 55.5% (n = 5) of subjects were classified as responders and the rest as non-responders. The responders showed improvement with significantly lower doses of levodopa than the remaining nonresponders (240 ± 54.7 mg vs. 400 ± 40.8 mg; p = 0.012).
Conclusion
Although levodopa is useful in HT, augmenting the dosage of levodopa beyond a certain point might not benefit patients clinically. Topography of vascular lesions within the thalamus might additionally influence the phenomenology of HT.
Review Articles
- Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models
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Airi Tarutani, Masato Hasegawa
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J Mov Disord. 2024;17(1):15-29. Published online November 22, 2023
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DOI: https://doi.org/10.14802/jmd.23213
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- Intracellular α-synuclein (α-syn) inclusions are a neuropathological hallmark of Lewy body disease (LBD) and multiple system atrophy (MSA), both of which are termed synucleinopathies. LBD is defined by Lewy bodies and Lewy neurites in neurons, while MSA displays glial cytoplasmic inclusions in oligodendrocytes. Pathological α-syn adopts an ordered filamentous structure with a 5–10 nm filament diameter, and this conformational change has been suggested to be involved in the disease onset and progression. Synucleinopathies also exhibit characteristic ultrastructural and biochemical properties of α-syn filaments, and α-syn strains with distinct conformations have been identified. Numerous experimental studies have supported the idea that pathological α-syn self-amplifies and spreads throughout the brain, during which processes the conformation of α-syn filaments may drive the disease specificity. In this review, we summarize the ultrastructural features and heterogeneity of α-syn filaments in the brains of patients with synucleinopathy and in experimental models of seeded α-syn aggregation.
- Fighting Against the Clock: Circadian Disruption and Parkinson’s Disease
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Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu
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J Mov Disord. 2024;17(1):1-14. Published online November 21, 2023
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DOI: https://doi.org/10.14802/jmd.23216
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- Circadian disruption is being increasingly recognized as a critical factor in the development and progression of Parkinson’s disease (PD). This review aims to provide an in-depth overview of the relationship between circadian disruption and PD by exploring the molecular, cellular, and behavioral aspects of this interaction. This review will include a comprehensive understanding of how the clock gene system and transcription–translation feedback loops function and how they are diminished in PD. The article also discusses the role of clock genes in the regulation of circadian rhythms, as well as the impact of clock gene dysregulation on mitochondrial function, oxidative stress, and neuroinflammation, including the microbiota-gut-brain axis, which have all been proposed as being crucial mechanisms in the pathophysiology of PD. Finally, this review highlights potential therapeutic strategies targeting the clock gene system and circadian rhythm for the treatment of PD.
- Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease
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Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
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J Mov Disord. 2023;16(1):22-41. Published online January 12, 2023
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DOI: https://doi.org/10.14802/jmd.22141
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Abstract
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- 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.
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Citations
Citations to this article as recorded by
- RNA-based controllers for engineering gene and cell therapies
Kei Takahashi, Kate E Galloway
Current Opinion in Biotechnology.2024; 85: 103026. CrossRef - Precision Medicine in Parkinson's Disease Using Induced Pluripotent Stem Cells
Min Seong Kim, Hyesoo Kim, Gabsang Lee
Advanced Healthcare Materials.2024;[Epub] CrossRef - A recent update on drugs and alternative approaches for parkinsonism
Sneha Kispotta, Debajyoti Das, Shakti Ketan Prusty
Neuropeptides.2024; 104: 102415. CrossRef - Potential for Therapeutic-Loaded Exosomes to Ameliorate the Pathogenic Effects of α-Synuclein in Parkinson’s Disease
David J. Rademacher
Biomedicines.2023; 11(4): 1187. CrossRef - Neural Stem Cell Therapies: Promising Treatments for Neurodegenerative Diseases
Amir Gholamzad, Hadis Sadeghi, Maryam Azizabadi Farahani, Ali Faraji, Mahya Rostami, Sajad Khonche, Shirin Kamrani, Mahsa Khatibi, Omid Moeini, Seyed Armit Hosseini, Mohammadmatin Nourikhani, Mehrdad Gholamzad
Neurology Letters.2023; 2(2): 55. CrossRef - Should continuous dopaminergic stimulation be a standard of care in advanced Parkinson’s disease?
Z. Pirtošek, V. Leta, P. Jenner, M. Vérin
Journal of Neural Transmission.2023; 130(11): 1395. CrossRef
- Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
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Mu-Hui Fu, Yung-Yee Chang
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J Mov Disord. 2023;16(2):115-132. Published online March 7, 2023
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DOI: https://doi.org/10.14802/jmd.22127
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Abstract
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- Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.
Original Articles
- Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy
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Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo
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J Mov Disord. 2024;17(1):55-63. Published online September 26, 2023
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DOI: https://doi.org/10.14802/jmd.23102
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- Objective
Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort.
Methods
We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (11C-CFT) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.
Results
The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.
Conclusion
The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.
- Caregiver Burden of Patients With Huntington’s Disease in South Korea
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Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee
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J Mov Disord. 2024;17(1):30-37. Published online September 11, 2023
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DOI: https://doi.org/10.14802/jmd.23134
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- Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.
- Comparative Olfactory Profiles in Parkinson’s Disease and Drug-Induced Parkinsonism
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In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-il Ma
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J Mov Disord. 2024;17(1):64-70. Published online October 6, 2023
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DOI: https://doi.org/10.14802/jmd.23105
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PDFSupplementary Material
- Objective
Drug-induced parkinsonism (DIP) is a frequently encountered diagnostic possibility when considering Parkinson’s disease (PD). While olfactory dysfunction is a common clinical feature in PD, the comparison of olfactory function between the two conditions remains insufficient. This study aimed to compare olfactory function, including threshold, discrimination, and identification (TDI) profiles, between PD and DIP.
Methods
Consecutive patients with drug-naïve PD (n = 78) or DIP (n = 31) confirmed through dopamine transporter imaging were enrolled in this study. The YSK olfactory function (YOF) test, composed of TDI domains culturally familiar odorants to Koreans, was administered to all patients.
Results
In the study population, patients with DIP were significantly older than patients with PD. Over 70% of patients in each group had hyposmia or anosmia, and there was no significant difference in the occurrence of olfactory dysfunction between the two groups. In addition, there were no differences in the total YOF score and threshold score between the two groups. Meanwhile, the PD group had a significantly lower discrimination and identification score than the DIP group after adjusting for age, sex, the existence of diabetes, disease duration, and cognitive function.
Conclusion
This study demonstrated that detailed olfactory profiles are different in PD and DIP, even though olfactory dysfunction can be observed in both conditions.
Review Article
- GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
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Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung
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J Mov Disord. 2023;16(3):261-278. Published online June 12, 2023
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DOI: https://doi.org/10.14802/jmd.23023
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- Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.
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Citations
Citations to this article as recorded by
- A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
International Journal of Molecular Sciences.2024; 25(3): 1827. CrossRef
Case Report
- A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review
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Pei‐Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun‐Chieh Wang, Chih-Ying Chao, Yih‐Ru Wu
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J Mov Disord. 2024;17(1):94-98. Published online October 23, 2023
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DOI: https://doi.org/10.14802/jmd.23142
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- Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with TUBB4A mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole-exome sequencing (WES) on the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel TUBB4A p.F341L mutation, which was present in all three affected patients but absent in the unaffected father. The affected patients presented with adult-onset TUBB4A disorder, predominant spastic paraparesis with/without ataxia, and brain hypomyelination with no cognitive impairment or extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.
Review Articles
- Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem
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Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim
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J Mov Disord. 2023;16(2):138-151. Published online May 24, 2023
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DOI: https://doi.org/10.14802/jmd.22220
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- Patients with Parkinson’s disease (PD) face a multitude of gastrointestinal (GI) symptoms, including nausea, bloating, reduced bowel movements, and difficulties with defecation. These symptoms are common and may accumulate during the course of PD but are often under-recognized and challenging to manage. Objective testing can be burdensome to patients and does not correlate well with symptoms. Effective treatment options are limited. Evidence is often based on studies in the general population, and specific evidence in PD is scarce. Upper GI dysfunction may also interfere with the pharmacological treatment of PD motor symptoms, which poses significant management challenges. Several new less invasive assessment tools and novel treatment options have emerged in recent years. The current review provides an overview and a practical approach to recognizing and diagnosing common upper and lower GI problems in PD, e.g., dyspepsia, gastroparesis, small bowel dysfunction, chronic constipation, and defecatory dysfunction. Management aspects are discussed based on the latest evidence from the PD and general populations, with insights for future research pertaining to GI dysfunction in PD.
- Multiple System Atrophy: Advances in Diagnosis and Therapy
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Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito
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J Mov Disord. 2023;16(1):13-21. Published online December 20, 2022
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DOI: https://doi.org/10.14802/jmd.22082
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- 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.
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Citations
Citations to this article as recorded by
- A Blinded Evaluation of Brain Morphometry for Differential Diagnosis of Atypical Parkinsonism
Kazuya Kawabata, Florian Krismer, Beatrice Heim, Anna Hussl, Christoph Mueller, Christoph Scherfler, Elke R. Gizewski, Klaus Seppi, Werner Poewe
Movement Disorders Clinical Practice.2024;[Epub] CrossRef
Original Article
- Parkinson’s Disease, Impulsive-Compulsive Behaviors, and Health-Related Quality of Life
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Marie Grall-Bronnec, Audrey Verholleman, Caroline Victorri-Vigneau, Juliette Leboucher, Elsa Thiabaud, Jean-Benoit Hardouin, Benoit Schreck, Tiphaine Rouaud, Monica Roy, Pascal Derkinderen, Gaëlle Challet-Bouju
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J Mov Disord. 2024;17(1):82-88. Published online November 6, 2023
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DOI: https://doi.org/10.14802/jmd.23042
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- Objective
A large body of literature has examined the links between the use of dopamine replacement therapy (DRT) in Parkinson’s disease (PD) and the development of “impulsive-compulsive behaviors (ICBs).” Little is known regarding the link between the development of ICBs and health-related quality of life (HRQOL). We aimed to explore the factors that are associated with poorer HRQOL, especially in relation to DRT-induced ICBs, in a sample of PD patients.
Methods
This PARKADD (PARK: PARKinson’s disease; ADD: behavioral ADDictions) study was a prospective case‒control study initially designed to assess the factors associated with ICBs in PD patients. A prospective clinical follow-up was added, aiming to capture the long-term evolution of HRQOL in relation to ICBs occurring or worsening after the beginning of PD. We focused on sociodemographic and PD characteristics and the history or presence of ICBs. HRQOL was measured using the Parkinson’s Disease Questionnaire-8. A multivariate linear regression was performed to identify factors related to poorer HRQOL.
Results
A total of 169 patients were eligible for the follow-up study. The presence of an ICB, a higher levodopa equivalent daily dose (LEDD) and a longer PD duration were significantly associated with poorer HRQOL, with an interaction between LEDD and PD duration.
Conclusion
The presence of an ICB was related to poorer HRQOL and should be considered a crucial factor for the management of PD patients. Several studies were recently published that provide guidelines for the management of these patients, with recommendations based on two key principles: prevention and specific treatment.
Brief communication
- A Survey of Perspectives on Telemedicine for Patients With Parkinson’s Disease
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Jae Young Joo, Ji Young Yun, Young Eun Kim, Yu Jin Jung, Ryul Kim, Hui-Jun Yang, Woong-Woo Lee, Aryun Kim, Han-Joon Kim
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J Mov Disord. 2024;17(1):89-93. Published online August 22, 2023
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DOI: https://doi.org/10.14802/jmd.23130
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Parkinson’s disease (PD) patients often find it difficult to visit hospitals because of motor symptoms, distance to the hospital, or the absence of caregivers. Telemedicine is one way to solve this problem.
Methods
We surveyed 554 PD patients from eight university hospitals in Korea. The questionnaire consisted of the clinical characteristics of the participants, possible teleconferencing methods, and preferences for telemedicine.
Results
A total of 385 patients (70%) expressed interest in receiving telemedicine. Among them, 174 preferred telemedicine whereas 211 preferred in-person visits. The longer the duration of disease, and the longer the time required to visit the hospital, the more patients were interested in receiving telemedicine.
Conclusion
This is the first study on PD patients’ preferences regarding telemedicine in Korea. Although the majority of patients with PD have a positive view of telemedicine, their interest in receiving telemedicine depends on their different circumstances.
Letter to the editor