Journal of Movement Disorders

From articles published in Journal of Movement Disorders during the past two years (2022 ~ ).

Original Article

Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy: Jia Wei Hor, Shen-Yang Lim, Eng Soon Khor, Kah Kian Chong, Sze Looi Song, Norlinah Mohamed Ibrahim, Cindy Shuan Ju Teh, Chun Wie Chong, Ida Normiha Hilmi, Ai Huey Tan; J Mov Disord. 2022;15(2):106-114. Published online December 24, 2021; DOI: https://doi.org/10.14802/jmd.21085

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Objective
Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA.
Methods
We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed.
Results
Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA.
Conclusions
Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.

Citations

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Calprotectin in Parkinsonian disease: Anticipation and dedication
Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Ayah Talal Zaidalkiani, Athanasios Alexiou, Marios Papadakis, Mostafa M. Bahaa, Ammar AL-Faraga, Gaber El-Saber Batiha
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Diagnostic Accuracy of Fecal Calprotectin in Discriminating Organic-Inflammatory Gastrointestinal Diseases and Functional Gastrointestinal Disorders in Older Patients
Antonella Gallo, Marcello Covino, Silvia Baroni, Sara Camilli, Francesca Ibba, Silvia Andaloro, Maria Chiara Agnitelli, Fiammetta Maria Rognoni, Francesco Landi, Massimo Montalto
Journal of Personalized Medicine.2024; 14(3): 227. CrossRef
Nocardia cyriacigeorgica Elicits Gut Disturbances in a Leaky Gut Model of Colitis, but Not the Harmful Cascade Leading to Gut-First Parkinson’s Disease
João Duarte Magalhães, Emanuel Candeias, Inês Melo-Marques, António E. Abreu, Ana Raquel Pereira-Santos, Ana Raquel Esteves, Sandra Morais Cardoso, Nuno Empadinhas
International Journal of Molecular Sciences.2024; 25(6): 3423. CrossRef
The Effect of Gut Microbiota-Targeted Interventions on Neuroinflammation and Motor Function in Parkinson’s Disease Animal Models—A Systematic Review
Paul-Ștefan Panaitescu, Vlad Răzniceanu, Ștefania-Maria Mocrei-Rebrean, Vlad Sever Neculicioiu, Hanna-Maria Dragoș, Carmen Costache, Gabriela Adriana Filip
Current Issues in Molecular Biology.2024; 46(5): 3946. CrossRef
Gut Microbes Associated with Neurodegenerative Disorders: A Comprehensive Review of the Literature
Christos Koutsokostas, Ermis Merkouris, Apostolos Goulas, Konstantina Aidinopoulou, Niki Sini, Theofanis Dimaras, Dimitrios Tsiptsios, Christoph Mueller, Maria Nystazaki, Konstantinos Tsamakis
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Advice to People with Parkinson’s in My Clinic: Probiotics and Prebiotics
Jia Wei Hor, Tzi Shin Toh, Shen-Yang Lim, Ai Huey Tan
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Faecal intestinal permeability and intestinal inflammatory markers in older adults with age-related disorders: A systematic review and meta-analysis
Nurul Izzati Ahmad Fadzuli, Siong Meng Lim, Chin Fen Neoh, Abu Bakar Abdul Majeed, Maw Pin Tan, Hui Min Khor, Ai Huey Tan, Kalavathy Ramasamy
Ageing Research Reviews.2024; 101: 102506. CrossRef
Importance of Inflammatory Markers in the Evolution of Parkinson Disease Patients with Device Aided Therapies (Mini-Series of Cases)
Cristina Ramona Tase, Any Axelerad, Andra-Iulia Suceveanu
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Inflammation in multiple system atrophy
Marta Leńska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Królicki, Urszula Fiszer, Dariusz Koziorowski
Frontiers in Immunology.2023;[Epub] CrossRef
Gut-to-brain spreading of pathology in synucleinopathies: A focus on molecular signalling mediators
Verena Schmitt, Rebecca Katharina Masanetz, Martin Weidenfeller, Lara Savannah Ebbinghaus, Patrick Süß, Stephan P. Rosshart, Stephan von Hörsten, Friederike Zunke, Jürgen Winkler, Wei Xiang
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Calprotectin, Biomarker of Depression in Patients with Inflammatory Bowel Disease?
Miorita Melina Iordache, Anca Mihaela Belu, Sabina E. Vlad, Kamer Ainur Aivaz, Andrei Dumitru, Cristina Tocia, Eugen Dumitru
Medicina.2023; 59(7): 1240. CrossRef
Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya
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Fecal Calprotectin as an Intestinal Inflammation Marker is Elevated in Glaucoma
Zuo Wang, Hang Yuan, Xiong Zhu, Jinxia Wang, Wenbo Xiu, Yang Chen, Gao Zhang, Jing Fu, Kun Peng, An Li, Donghua Liu, Xijing Huang, Chong He, Fang Lu
Biomarkers in Medicine.2023; 17(9): 465. CrossRef
Pesticides and the Microbiome-Gut-Brain Axis: Convergent Pathways in the Pathogenesis of Parkinson’s Disease
Kristina Kulcsarova, Corinna Bang, Daniela Berg, Eva Schaeffer
Journal of Parkinson's Disease.2023; 13(7): 1079. CrossRef
The microbiome–gut–brain axis in Parkinson disease — from basic research to the clinic
Ai Huey Tan, Shen Yang Lim, Anthony E. Lang
Nature Reviews Neurology.2022; 18(8): 476. CrossRef
The Gut Microbiome–Brain Crosstalk in Neurodegenerative Diseases
Laura Ghezzi, Claudia Cantoni, Emanuela Rotondo, Daniela Galimberti
Biomedicines.2022; 10(7): 1486. CrossRef
Gastrointestinal Involvement in Extra-Digestive Disease: Which Is the Role of Fecal Calprotectin?
Angela Saviano, Marcello Candelli, Christian Zanza, Andrea Piccioni, Alessio Migneco, Veronica Ojetti
Medicina.2022; 58(10): 1384. CrossRef

Review Article

Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease: Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim; J Mov Disord. 2023;16(1):22-41. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22141

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Abstract 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.

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Original Article

Premonitory Urges Reconsidered: Urge Location Corresponds to Tic Location in Patients With Primary Tic Disorders: Jana Essing, Ewgeni Jakubovski, Nikolas Psathakis, Sinan N Cevirme, James F Leckman, Kirsten R Müller-Vahl; J Mov Disord. 2022;15(1):43-52. Published online January 25, 2022; DOI: https://doi.org/10.14802/jmd.21045

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Abstract PDF Supplementary Material

Objective
In patients with Tourette syndrome and other primary tic disorders (PTDs), tics are typically preceded by premonitory urges (PUs). To date, only a few studies have investigated the location and frequency of PUs, and contrary to clinical experience, the results suggest that PUs are not located in the same anatomic region as the tics. This study aimed to further explore PU location and frequency in detail, differentiating the kind and complexity of the corresponding tics, in a large sample of patients with PTD.
Methods
A total of 291 adult (≥ 18 years) patients with a confirmed diagnosis of chronic PTD were included. The study was conducted online, assement included tics and the general characterization of PUs and a sophisticated body drawing for locating PUs.
Results
We found that PUs were located in the same body area as, or in direct proximity to, the corresponding tic. Most frequently, PUs were located in the face and at the head (62.1%). Compared with simple tics, complex (motor and vocal) tics were more often preceded by a PU; but there was no difference in PU frequency observed between motor tics and vocal tics. PUs were more often experienced at the front than at the back of the body (73% vs. 27%), while there was no difference between the right and left sides (41.6% vs. 41.3%).
Conclusion
The strong association between PU and tic location further supports the hypothesis that PUs represent the core of PTD. Accordingly, future therapies should focus on treating PUs to achieve greater tic reduction.

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Review Articles

Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy: Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim; J Mov Disord. 2022;15(1):1-14. Published online November 3, 2021; DOI: https://doi.org/10.14802/jmd.21078

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Abstract PDF

Accumulation of alpha-synuclein (αSyn) protein in neurons is a renowned pathological hallmark of Parkinson’s disease (PD). In addition, accumulating evidence indicates that activated inflammatory responses are involved in the pathogenesis of PD. Thus, achieving a better understanding of the interaction between inflammation and synucleinopathy in relation to the PD process will facilitate the development of promising disease-modifying therapies. In this review, the evidence of inflammation in PD is discussed, and human, animal, and laboratory studies relevant to the relationship between inflammation and αSyn are explored as well as new therapeutic targets associated with this relationship.

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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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Gene Therapy for Huntington’s Disease: The Final Strategy for a Cure?: Seulgi Byun, Mijung Lee, Manho Kim; J Mov Disord. 2022;15(1):15-20. Published online November 17, 2021; DOI: https://doi.org/10.14802/jmd.21006

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Huntington’s disease (HD) has become a target of the first clinical trials for gene therapy among movement disorders with a genetic origin. More than 100 clinical trials regarding HD have been tried, but all failed, although there were some improvements limited to symptomatic support. Compared to other neurogenetic disorders, HD is known to have a single genetic target. Thus, this is an advantage and its cure is more feasible than any other movement disorder with heterogeneous genetic causes. In this review paper, the authors attempt to cover the characteristics of HD itself while providing an overview of the gene transfer methods currently being researched, and will introduce an experimental trial with a preclinical model of HD followed by an update on the ongoing clinical trials for patients with HD.

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Subjective Cognitive Complaints in Cognitively Normal Patients With Parkinson’s Disease: A Systematic Review: Jin Yong Hong, Phil Hyu Lee; J Mov Disord. 2023;16(1):1-12. Published online November 10, 2022; DOI: https://doi.org/10.14802/jmd.22059

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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.

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Letter to the editor

COVID-19 Associated Acute Necrotizing Encephalopathy Presenting as Parkinsonism and Myorhythmia: Tien Lee Ong, Khariah Mat Nor, Yusniza Yusoff, Sapiah Sapuan; J Mov Disord. 2022;15(1):89-92. Published online November 17, 2021; DOI: https://doi.org/10.14802/jmd.21063

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Review Article

Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem: Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim; J Mov Disord. 2023;16(2):138-151. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22220

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Abstract PDF

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.

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Original Article

Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease: Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn; J Mov Disord. 2022;15(3):249-257. Published online September 7, 2022; DOI: https://doi.org/10.14802/jmd.22063

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Objective
To investigate whether there is a link between cognitive function and motor reserve (i.e., individual capacity to cope with nigrostriatal dopamine depletion) in patients with newly diagnosed Parkinson’s disease (PD).
Methods
A total of 163 patients with drug-naïve PD who underwent ¹⁸F-FP-CIT PET, brain MRI, and a detailed neuropsychological test were enrolled. We estimated individual motor reserve based on initial motor deficits and striatal dopamine depletion using a residual model. We performed correlation analyses between motor reserve estimates and cognitive composite scores. Diffusion connectometry analysis was performed to map the white matter fiber tracts, of which fractional anisotropy (FA) values were well correlated with motor reserve estimates. Additionally, Cox regression analysis was used to assess the effect of initial motor reserve on the risk of dementia conversion.
Results
The motor reserve estimate was positively correlated with the composite score of the verbal memory function domain (γ = 0.246) and with the years of education (γ = 0.251). Connectometry analysis showed that FA values in the left fornix were positively correlated with the motor reserve estimate, while no fiber tracts were negatively correlated with the motor reserve estimate. Cox regression analysis demonstrated that higher motor reserve estimates tended to be associated with a lower risk of dementia conversion (hazard ratio, 0.781; 95% confidence interval, 0.576–1.058).
Conclusion
The present study demonstrated that the motor reserve estimate was well correlated with verbal memory function and with white matter integrity in the left fornix, suggesting a possible link between cognition and motor reserve in patients with PD.

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Hippocampal Perfusion Affects Motor and Cognitive Functions in Parkinson Disease: An Early Phase 18F‐FP‐CIT Positron Emission Tomography Study
Min Young Chun, Seok Jong Chung, Su Hong Kim, Chan Wook Park, Seong Ho Jeong, Hye Sun Lee, Phil Hyu Lee, Young H. Sohn, Yong Jeong, Yun Joong Kim
Annals of Neurology.2024; 95(2): 388. CrossRef
Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
Changhwan Sung, Seung Jun Oh, Jae Seung Kim
Nuclear Medicine and Molecular Imaging.2024; 58(4): 185. CrossRef
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Isaac Saywell, Lauren Foreman, Brittany Child, Alexander L. Phillips-Hughes, Lyndsey Collins-Praino, Irina Baetu
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Structural underpinnings and long-term effects of resilience in Parkinson’s disease
Verena Dzialas, Merle C. Hoenig, Stéphane Prange, Gérard N. Bischof, Alexander Drzezga, Thilo van Eimeren
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Considering the response in addition to the challenge – a narrative review in appraisal of a motor reserve framework
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Defining the concept of reserve in the motor domain: a systematic review
Andreina Giustiniani, Angelo Quartarone
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The association of motor reserve and clinical progression in Parkinson’s disease
Xueqin Bai, Shiwei Zhang, Qiuyue Li, Tao Guo, Xiaojun Guan, Andan Qian, Shuangli Chen, Ronghui Zhou, Yitong Cheng, Haoxin Chen, Zhaoke Gou, Chenglong Xie, Zhen Wang, Minming Zhang, Xiangwu Zheng, Meihao Wang
NeuroImage: Clinical.2024; 44: 103704. CrossRef
Occipital hypoperfusion and motor reserve in Parkinson’s disease: an early-phase 18F-FP-CIT PET study
Yeo Jun Yoon, Su Hong Kim, Seong Ho Jeong, Chan Wook Park, Hye Sun Lee, Phil Hyu Lee, Yun Joong Kim, Young H. Sohn, Yong Jeong, Seok Jong Chung
npj Parkinson's Disease.2024;[Epub] CrossRef
Extra-Basal Ganglia Brain Structures Are Related to Motor Reserve in Parkinson’s Disease
Jinyoung Youn, Ji Hye Won, Mansu Kim, Junmo Kwon, Seung Hwan Moon, Minkyeong Kim, Jong Hyun Ahn, Jun Kyu Mun, Hyunjin Park, Jin Whan Cho
Journal of Parkinson's Disease.2023; 13(1): 39. CrossRef

Brief communication

Current Status of Telemedicine for Parkinson’s Disease in Japan: A Single-Center Cross-Sectional Questionnaire Survey: Mayuko Ogawa, Genko Oyama, Satoko Sekimoto, Taku Hatano, Nobutaka Hattori; J Mov Disord. 2022;15(1):58-61. Published online December 24, 2021; DOI: https://doi.org/10.14802/jmd.21096

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Objective
Using telemedicine is a way to improve the accessibility of specialists for patients with Parkinson’s disease (PD); however, it is not widely used in Japan. We investigated the efficacy of telemedicine in PD by using a single-center cross-sectional questionnaire survey.
Methods
We sent a questionnaire to patients who agreed to participate from among 52 patients with PD who had used telemedicine services at Juntendo University Hospital from October 2017 to November 2018. Caregivers were asked to respond to one question separately.
Results
A total of 38 patients responded to the questionnaire. Most patients were satisfied with the telemedicine consultation (7.8 ± 1.9), reporting that it was effective in reducing their travel burden. Twenty-one patients attended a telemedicine consultation with their caregivers, and their satisfaction was high (8.4 ± 1.8).
Conclusion
In a specific cohort in Japan, patients with PD and their caregivers were mostly satisfied with the telemedicine service.

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Viewpoint

Potential Benefits and Perils of Incorporating ChatGPT to the Movement Disorders Clinic: Andres Deik; J Mov Disord. 2023;16(2):158-162. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.23072

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Case Report

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene: Jae-Hyeok Lee, Jin-Hong Shin; J Mov Disord. 2022;15(2):171-174. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21143

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Abstract PDF

Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa₂EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.

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Journal of Clinical Medicine.2024; 13(10): 2823. CrossRef
Expression of Manganese Transporters ZIP8, ZIP14, and ZnT10 in Brain Barrier Tissues
Shannon Morgan McCabe, Ningning Zhao
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Shannon McCabe, Kirsten Limesand, Ningning Zhao
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Qingli Liu, Supak Jenkitkasemwong, Tamanna Afrin Prami, Shannon Morgan McCabe, Ningning Zhao, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
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Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
Alexander N. Rodichkin, Tomás R. Guilarte
International Journal of Molecular Sciences.2022; 23(21): 12833. CrossRef
Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism
Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
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Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
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Letter to the editor

Task-Specific Dystonia in a Professional Billiard Player: Hyukje Lee, Sang-Won Yoo, Joong-Seok Kim; J Mov Disord. 2022;15(1):86-88. Published online September 8, 2021; DOI: https://doi.org/10.14802/jmd.21055

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Original Article

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; J Mov Disord. 2023;16(1):79-85. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22175

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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.

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