Journal of Movement Disorders

Most-download articles are from the articles published in 2023 during the last three month.

Review Articles

Functional Movement Disorders: Updates and Clinical Overview: Jung E Park; J Mov Disord. 2024;17(3):251-261. Published online July 1, 2024; DOI: https://doi.org/10.14802/jmd.24126

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Functional movement disorder (FMD) is a type of functional neurological disorder that is common but often difficult to diagnose or manage. FMD can present as various phenotypes, including tremor, dystonia, myoclonus, gait disorders, and parkinsonism. Conducting a clinical examination appropriate for assessing a patient with suspected FMD is important, and various diagnostic testing maneuvers may also be helpful. Treatment involving a multidisciplinary team, either outpatient or inpatient, has been found to be most effective. Examples of such treatment protocols are also discussed in this review. While recognition and understanding of the disorder has improved over the past few decades, as well as the development of treatments, it is not uncommon for patients and physicians to continue to experience various difficulties when dealing with this disorder. In this review, I provide a practical overview of FMD and discuss how the clinical encounter itself can play a role in patients’ acceptance of the diagnosis. Recent neuroimaging studies that aid in understanding the pathophysiology are also discussed.

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Clinical insights into movement disorders in children: A review of etiology, diagnosis, and treatment options
Aron Christy, Ramya A
IP International Journal of Medical Paediatrics and Oncology.2024; 10(4): 103. CrossRef

Fighting Against the Clock: Circadian Disruption and Parkinson’s Disease: Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu; J Mov Disord. 2024;17(1):1-14. Published online November 21, 2023; DOI: https://doi.org/10.14802/jmd.23216

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Abstract PDF

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.

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Diabetes mellitus and glymphatic dysfunction: Roles for oxidative stress, mitochondria, circadian rhythm, artificial intelligence, and imaging
Kenneth Maiese
World Journal of Diabetes.2025;[Epub] CrossRef

Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models: Airi Tarutani, Masato Hasegawa; J Mov Disord. 2024;17(1):15-29. Published online November 22, 2023; DOI: https://doi.org/10.14802/jmd.23213

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Abstract PDF

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.

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Positron emission tomography tracers for synucleinopathies
Jie Xiang, Zhentao Zhang, Shengxi Wu, Keqiang Ye
Molecular Neurodegeneration.2025;[Epub] CrossRef
α-Synuclein: A Promising Biomarker for Parkinson’s Disease and Related Disorders
Taku Hatano, Ayami Okuzumi, Gen Matsumoto, Taiji Tsunemi, Nobutaka Hattori
Journal of Movement Disorders.2024; 17(2): 127. CrossRef
Exploring the Potential of Biomimetic Peptides in Targeting Fibrillar and Filamentous Alpha-Synuclein—An In Silico and Experimental Approach to Parkinson’s Disease
Sophia A. Frantzeskos, Mary A. Biggs, Ipsita A. Banerjee
Biomimetics.2024; 9(11): 705. CrossRef

Original Articles

Caregiver Burden of Patients With Huntington’s Disease in South Korea: 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; J Mov Disord. 2024;17(1):30-37. Published online September 11, 2023; DOI: https://doi.org/10.14802/jmd.23134

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Abstract PDF Supplementary Material

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.

Citations

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A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea
Chaewon Shin, Ryul Kim, Dallah Yoo, Eungseok Oh, Jangsup Moon, Minkyeong Kim, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
Journal of Movement Disorders.2024; 17(2): 138. CrossRef
Attitude toward physical activity among Asian American family caregivers of persons living with dementia
JiWon Choi, Van Park, Andrew Jung, Janice Tsoh
Geriatric Nursing.2024;[Epub] CrossRef

Analysis of Semiology, Lesion Topography and Treatment Outcomes: A Prospective Study on Post Thalamic Stroke Holmes Tremor: Amlan Kusum Datta, Adreesh Mukherjee, Sudeshna Malakar, Atanu Biswas; J Mov Disord. 2024;17(1):71-81. Published online October 20, 2023; DOI: https://doi.org/10.14802/jmd.23095

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Abstract PDF Supplementary Material: 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.

Comparative Olfactory Profiles in Parkinson’s Disease and Drug-Induced Parkinsonism: In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-il Ma; J Mov Disord. 2024;17(1):64-70. Published online October 6, 2023; DOI: https://doi.org/10.14802/jmd.23105

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Abstract PDF Supplementary 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.

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Olfactory dysfunction as potential biomarker in neurodegenerative diseases: a narrative review
Nicolas De Cleene, Katarína Schwarzová, Samuel Labrecque, Clancy Cerejo, Atbin Djamshidian, Klaus Seppi, Beatrice Heim
Frontiers in Neuroscience.2025;[Epub] CrossRef

Brief communication

A Survey of Perspectives on Telemedicine for Patients With Parkinson’s Disease: 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; J Mov Disord. 2024;17(1):89-93. Published online August 22, 2023; DOI: https://doi.org/10.14802/jmd.23130

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Abstract PDF Supplementary Material

Objective
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.

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Hospital utilization and telemedicine preferences in patients with late-stage Parkinson’s disease and caregivers
Seo Hyun Hong, Seoyeon Kim, Seungmin Lee, Bora Jin, Jung Hwan Shin, Kyung Ah Woo, Han-Joon Kim
Clinical Parkinsonism & Related Disorders.2025; 12: 100296. CrossRef
Feasibility and Satisfaction of a Smartphone Application-based Voice and Speech Training Program for Parkinson’s Disease: A Preliminary Rater-blinded Single Arm Pretest-Posttest Study (Preprint)
Sol-Hee Lee, Jiae Kim, Han-Joon Kim
Journal of Medical Internet Research.2024;[Epub] 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: Pei‐Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun‐Chieh Wang, Chih-Ying Chao, Yih‐Ru Wu; J Mov Disord. 2024;17(1):94-98. Published online October 23, 2023; DOI: https://doi.org/10.14802/jmd.23142

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Abstract PDF Supplementary Material: 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.

Original Articles

Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy: 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; J Mov Disord. 2024;17(1):55-63. Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23102

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Abstract PDF Supplementary Material

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.

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Optical Coherence Tomography as a Biomarker in the Differential Diagnosis between Parkinson’s Disease and Atypical Parkinsonian Syndromes: A Narrative Review
Stella Karatzetzou, Dimitrios Parisis, Serafeim Ioannidis, Theodora Afrantou, Panagiotis Ioannidis
Applied Sciences.2024; 14(6): 2491. CrossRef
Spatial-temporal dynamic evolution of lewy body dementia by metabolic PET imaging
Jiaqi Niu, Yan Zhong, Le Xue, Haotian Wang, Daoyan Hu, Yi Liao, Xiaohui Zhang, Xiaofeng Dou, Congcong Yu, Bo Wang, Yuan Sun, Mei Tian, Hong Zhang, Jing Wang
European Journal of Nuclear Medicine and Molecular Imaging.2024; 52(1): 145. CrossRef

Emotion Recognition in Multiple System Atrophy: An Exploratory Eye-Tracking Study: Victoria Sidoroff, Federico Carbone, Philipp Ellmerer, Stefanie Bair, Alexandra Hoffmann, Thomas Maran, Florian Krismer, Philipp Mahlknecht, Katherina Mair, Cecilia Raccagni, Jean-Pierre Ndayisaba, Klaus Seppi, Gregor K. Wenning, Atbin Djamshidian; J Mov Disord. 2024;17(1):38-46. Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23090

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Abstract PDF: Objective
Emotional processing is a core feature of social interactions and has been well studied in patients with idiopathic Parkinson’s disease (PD), albeit with contradictory results. However, these studies excluded patients with atypical parkinsonism, such as multiple system atrophy (MSA). The objective of this exploratory study was to provide better insights into emotion processing in patients with MSA using eye tracking data.
Methods
We included 21 MSA patients, 15 PD patients and 19 matched controls in this study. Participants performed a dynamic and a static emotion recognition task, and gaze fixations were analyzed in different areas of interest. Participants underwent neuropsychological testing and assessment of depression and alexithymia.
Results
MSA patients were less accurate in recognizing anger than controls (p = 0.02) and had overall fewer fixations than controls (p = 0.001). In the static task, MSA patients had fewer fixations (p < 0.001) and a longer time to first fixation (p = 0.026) on the eye region. Furthermore, MSA patients had a longer fixation duration overall than PD patients (p = 0.004) and longer fixations on the nose than controls (p = 0.005). Alexithymia scores were higher in MSA patients compared to controls (p = 0.038).
Conclusion
This study demonstrated impaired recognition of anger in MSA patients compared to HCs. Fewer and later fixations on the eyes along with a center bias suggest avoidance of eye contact, which may be a characteristic gaze behavior in MSA patients.

Parkinson’s Disease, Impulsive-Compulsive Behaviors, and Health-Related Quality of Life: 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; J Mov Disord. 2024;17(1):82-88. Published online November 6, 2023; DOI: https://doi.org/10.14802/jmd.23042

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Abstract PDF Supplementary Material

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.

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Behavioral disorders in Parkinson disease: current view
Kurt A. Jellinger
Journal of Neural Transmission.2024;[Epub] CrossRef

Hair Loss: A Well-Known Yet Understudied Symptom in Parkinson’s Disease Patients During Dopaminergic Therapy: Jungyeun Lee, Hwa Jung Ryu, Soon Young Hwang, Seong-Beom Koh; J Mov Disord. 2024;17(1):47-54. Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23088

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Abstract PDF Supplementary Material: Objective
Hair loss has been reported to occur during dopaminergic therapy in patients with Parkinson’s disease. The mechanism by which dopaminergic therapy induces hair loss is not well understood. Dopamine receptors are present in the hair follicle, where they regulate melanin production. However, the role of dopamine receptors in hair growth is still not well understood. This study aimed to evaluate the prevalence of hair loss and identify factors associated with complaints of hair loss in patients with Parkinson’s disease.
Methods
A cross-sectional design involving 495 Parkinson’s disease patients was applied to evaluate hair loss status. Patients completed a questionnaire, and scalp/hair examinations were performed. Patients with underlying conditions that could affect hair loss and those prescribed medications known to increase the risk of hair loss were excluded. Finally, 291 patients (58.8%) were included for analysis.
Results
Among the 495 patients, 138 (27.9%) reported hair loss. Interestingly, more than half of the patients who complained of hair loss (79 out of 138) did not utilize treatments such as hair products, massage, dietary modifications, or alopecia medications. Hair inspection by a single investigator revealed objective hair loss in 263 patients (53.1%). An analysis of factors associated with hair loss complaints showed that the intake of dopaminergic medications with a levodopa-equivalent daily dose > 448 mg was associated with complaints of hair loss.
Conclusion
Dopaminergic medication is associated with hair loss complaints in Parkinson’s disease patients.

Review Articles

Evidence-Based Review on Symptomatic Management of Huntington’s Disease: Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim; J Mov Disord. 2024;17(4):369-386. Published online August 9, 2024; DOI: https://doi.org/10.14802/jmd.24140; Correction in: https://doi.org/

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Abstract PDF Supplementary Material: Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive impairments and significant impacts on patient quality of life. This evidence-based review, conducted by the Korean Huntington Disease Society task force, systematically examines current pharmacological and nonpharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022 that focused on 23 symptoms across four domains: motor, neuropsychological, cognition, and others. This review provides a comprehensive and systematic approach to the management of HD, highlighting the need for more high-quality clinical trials to develop robust evidence-based guidelines.

α-Synuclein: A Promising Biomarker for Parkinson’s Disease and Related Disorders: Taku Hatano, Ayami Okuzumi, Gen Matsumoto, Taiji Tsunemi, Nobutaka Hattori; J Mov Disord. 2024;17(2):127-137. Published online April 9, 2024; DOI: https://doi.org/10.14802/jmd.24075

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Abstract PDF

Mutations in the SNCA gene, which encodes α-synuclein (α-syn), play a key role in the development of genetic Parkinson’s disease (PD). α-Syn is a major component of Lewy bodies in PD and glial cytoplasmic inclusions in multiple system atrophy (MSA). Rapid eye movement sleep behavior disorder patients often progress to PD, dementia with Lewy bodies, or MSA, which are collectively known as α-synucleinopathies. The loss of dopaminergic neurons with Lewy bodies precedes motor dysfunction in these diseases, but the mechanisms of neurodegeneration due to α-syn aggregation are poorly understood. Monitoring α-syn aggregation in vivo could serve as a diagnostic biomarker and help elucidate pathogenesis, necessitating a simple and accurate detection method. Seed amplification assays (SAAs), such as real-time quaking-induced conversion and protein misfolding cyclic amplification, are used to detect small amounts of abnormally structured α-syn protofibrils, which are central to aggregation. These methods are promising for the early diagnosis of α-synucleinopathy. Differences in α-syn filament structures between α-synucleinopathies, as observed through transmission electron microscopy and cryo-electron microscopy, suggest their role in the pathogenesis of neurodegeneration. SAAs may differentiate between subtypes of α-synucleinopathy and other diseases. Efforts are also being made to identify α-syn from blood using various methods. This review introduces body fluid α-syn biomarkers based on pathogenic α-syn seeds, which are expected to redefine α-synucleinopathy diagnosis and staging, improving clinical research accuracy and facilitating biomarker development.

Citations

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Selective detection of alpha synuclein amyloid fibrils by faradaic and non-faradaic electrochemical impedance spectroscopic approaches
Hussaini Adam, Subash C.B. Gopinath, Hemavathi Krishnan, Tijjani Adam, Makram A. Fakhri, Evan T. Salim, A. Shamsher, Sreeramanan Subramaniam, Yeng Chen
Bioelectrochemistry.2025; 161: 108800. CrossRef
Evolving Landscape of Parkinson’s Disease Research: Challenges and Perspectives
Rumiana Tenchov, Janet M. Sasso, Qiongqiong Angela Zhou
ACS Omega.2025; 10(2): 1864. CrossRef
Hypoxia Pathways in Parkinson’s Disease: From Pathogenesis to Therapeutic Targets
Yuanyuan Gao, Jiarui Zhang, Tuoxian Tang, Zhenjiang Liu
International Journal of Molecular Sciences.2024; 25(19): 10484. CrossRef
Circadian rhythm disruption: a potential trigger in Parkinson’s disease pathogenesis
Ke Xu, Yu Zhang, Yue Shi, Yake Zhang, Chengguang Zhang, Tianjiao Wang, Peizhu Lv, Yan Bai, Shun Wang
Frontiers in Cellular Neuroscience.2024;[Epub] CrossRef

Multiple System Atrophy: Advances in Diagnosis and Therapy: Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito; J Mov Disord. 2023;16(1):13-21. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22082

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Abstract 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.

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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; 11(4): 381. CrossRef
The potential of phosphorylated α‐synuclein as a biomarker for the diagnosis and monitoring of multiple system atrophy
Toufik Abdul‐Rahman, Ranferi Eduardo Herrera‐Calderón, Arjun Ahluwalia, Andrew Awuah Wireko, Tomas Ferreira, Joecelyn Kirani Tan, Maximillian Wolfson, Shankhaneel Ghosh, Viktoriia Horbas, Vandana Garg, Asma Perveen, Marios Papadakis, Ghulam Md Ashraf, Ath
CNS Neuroscience & Therapeutics.2024;[Epub] CrossRef
Delivering the diagnosis of multiple system atrophy: a multicenter survey on Japanese neurologists’ perspectives
Miki Yoshitake, Atsuhiko Sugiyama, Takayoshi Shimohata, Nobuyuki Araki, Masahide Suzuki, Kazumoto Shibuya, Kengo Nagashima, Nobutaka Hattori, Satoshi Kuwabara
BMC Neurology.2024;[Epub] CrossRef
Clinical comparison of the 2008 and 2022 diagnostic criteria for early multiple system atrophy-cerebellar type
Seoyeon Kim, Kyung Ah Woo, Jung Hwan Shin, Han-Joon Kim, Beomseok Jeon
Clinical Autonomic Research.2024; 34(6): 609. CrossRef
Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson’s Disease
Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
Journal of Movement Disorders.2024; 17(4): 398. CrossRef

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