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Letter to the editor
The first East Asian Parkinson’s disease caused by A53E SNCA mutation with early progression to dementia
Yeo Jun Yoon, Chan Wook Park, Jin Ju Kim, Seok Jong Chung, Yun Joong Kim
Received May 17, 2024  Accepted June 13, 2024  Published online June 13, 2024  
DOI: https://doi.org/10.14802/jmd.24118    [Accepted]
  • 88 View
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Original Article
Fatigue in PD is due to decreased efficiency of the frontal network: quantitative EEG analysis
Min Seung Kim, SangUk Park, Ukeob Park, Seung Wan Kang, Suk Yun Kang
Received February 17, 2024  Accepted June 5, 2024  Published online June 10, 2024  
DOI: https://doi.org/10.14802/jmd.24038    [Accepted]
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AbstractAbstract PDF
Objective
Fatigue is a common, debilitating non-motor symptom of Parkinson’s disease (PD), but its mechanism is poorly understood. We aimed to determine whether electroencephalography (EEG) could measure fatigue objectively and to expound on the pathophysiology of fatigue in PD.
Methods
We studied 32 de novo PD patients who underwent electroencephalography (EEG). We compared brain activity between 19 PD patients without fatigue and 13 PD patients with fatigue via EEG power spectrum and graph including global efficiency (GE), characteristic path length (CPL), clustering coefficient (CCO), small worldness (SW), local efficiency (LE), degree centrality (DC), closeness centrality (CCE), and betweenness centrality (BC).
Results
No significant differences in absolute and relative powers were seen between PD without and with fatigue (all ps > 0.02, Bonferroni-corrected). In network analysis, the brain network efficiency differed by frequency band. Generally, the brain network in the frontal area for theta and delta bands showed greater efficiency, and in the temporal area, the alpha1 band was less efficient in PD without fatigue (p= 0.0000, p = 0.0011, ps ≤ 0.0007, respectively, Bonferroni-corrected).
Conclusions
Our study suggests that PD patients with fatigue have less efficient networks in the frontal area compared with networks of those with PD without fatigue. These findings may explain why fatigue is common in PD, a frontostriatal disorder. Increased efficiency in the temporal area in PD with fatigue is assumed to be compensation. Brain network analysis using graph theory is more valuable than power spectrum analysis in revealing the brain mechanism related to fatigue.
Letters to the editor
Adult-Onset Alexander Disease with late-presenting vestibulopathy: A case report
Hee Jin Chang, Seong-Hae Jeong, Eungseok Oh
Received November 7, 2023  Accepted May 24, 2024  Published online May 27, 2024  
DOI: https://doi.org/10.14802/jmd.23230    [Accepted]
  • 215 View
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Dopamine Dysregulation Syndrome Presenting as Overuse of Mucuna pruriens Levodopa Supplement
David O. Sohutskay, Rachel M. Suen, Farwa Ali, David J. Rosenman
Received March 16, 2024  Accepted May 18, 2024  Published online May 21, 2024  
DOI: https://doi.org/10.14802/jmd.24067    [Accepted]
  • 415 View
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Tremulous dystonia due to GNAL haploinsufficiency caused by 18p deletion syndrome
Arianna Braccia, Miryam Carecchio, Francesca Luisa Sciacca, Anna Castagna, Antonio Emanuele Elia, Luigi Michele Romito
Received March 29, 2024  Accepted May 13, 2024  Published online May 13, 2024  
DOI: https://doi.org/10.14802/jmd.24080    [Accepted]
  • 640 View
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Tremors in Infantile Tremor Syndrome mimicking Epilepsia Partialis Continua
Tonyot Gailson, Pradeep Kumar Gunasekaran, ArushiGahlot Saini, Chaitanya Reddy
Received March 22, 2024  Accepted May 8, 2024  Published online May 8, 2024  
DOI: https://doi.org/10.14802/jmd.24074    [Accepted]
  • 562 View
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Dystonic cerebral palsy like presentation caused by a novel TCF20 variant
Pankaj Prasun, Kylie Vermeire, Stephanie Ferimer
Received January 5, 2024  Accepted April 25, 2024  Published online April 26, 2024  
DOI: https://doi.org/10.14802/jmd.24007    [Accepted]
  • 483 View
  • 12 Download
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Original Article
LRRK2 G2019S impact on Parkinson disease; clinical phenotype and treatment in Tunisian patients
Guedi ALI BARREH, Ikram SGHAIER, Youssef ABIDA, Alya GHARBI, Amina NASRI, Saloua MRABET, Amira SOUISSI, Mouna BEN DJEBARA, Sameh TRABELSI, Imen KACEM, Amina GARGOURI-BERRACHI, Riadh GOUIDER
Received December 30, 2023  Accepted April 19, 2024  Published online April 23, 2024  
DOI: https://doi.org/10.14802/jmd.23276    [Accepted]
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AbstractAbstract PDF
Background
LRRK2-G2019S is the most frequent mutation in North African Parkinson's disease (PD) patients.Data on its impact on disease progression and treatment response remains elusive.Therefore, we aimed to explore the clinical features,treatments,and complications through the disease course of PD Tunisian patients according to their LRRK2-G2019S profile.
Methods
Longitudinal retrospective study conducted in the department of Neurology,Razi University Hospital.We included clinically diagnosed PD patients according to the MDS criteria and reviewed their medical records for clinical,treatment, and neuropsychological assessments.LRRK2-G2019S mutation was screened among all cases using Sanger sequencing.The correlation of LRRK2-G2019S and the clinical PD features was then evaluated.
Results
We included 393 PD patients with 41.5% of cases were mutated for LRRK2-G2019S. Those with mutation exhibited an earlier age of onset(p=0.017),and female-PD cases had a higher mutation frequency (p=0.008).Mutation carriers displayed distinct clinical features,with a higher frequency of postural instability gait difficulty (PIGD)forms(adjusted-p<0.001).Throughout the disease progression,carriers showed a faster annual progression in UPDRS-III scores (adjusted-p=0.009) and a significantly higher Levodopa Equivalent Dosevalues in later stages(1060.81 vs. 877.83 for 6-8 years).Motor complications such as dyskinesia (adjusted-p<0.001) and motor fluctuations(31.9% vs. 25.7%,adjusted-p<0.001) were more prevalent in carriers,particularly in later stages.LRRK2-G2019S carriers also exhibited a lower prevalence of non-motor symptoms including cognitive disordersfor episodic memory(adjusted-p<0.001),attention(adjusted-p<0.001),and dysexecutive disorders (adjusted-p=0.039),as well asneuropsychiatric symptoms and dysautonomic signs.
Conclusion
This study demonstrated the variability of clinical profile among Tunisian PD cases explained by the incomplete penetrance of LRRK2-G2019S that increases with age.Further studies with biomarker and disease progression data are necessary to improve PD management.
Letter to the editor
Deep Brain Stimulation in Advanced Parkinson’s Disease: An Uncommon Case of Allergic Encephalitis
Jyun-Yi Chen, Yen-Chung Chen, Shey-Lin Wu
Received November 16, 2023  Accepted April 12, 2024  Published online April 15, 2024  
DOI: https://doi.org/10.14802/jmd.23237    [Accepted]
  • 747 View
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Viewpoint
Neurological perspectives should be integrated into the management of tardive dyskinesia – expert opinion and proposed educational initiatives in Asia
Roongroj Bhidayasiri, Onanong Phokaewvarangkul, Thien Thien Lim, Pramod Kumar Pal, Hirohisa Watanabe, Jin Whan Cho, Hui-Fang Shang
Received March 17, 2024  Accepted April 11, 2024  Published online April 11, 2024  
DOI: https://doi.org/10.14802/jmd.24068    [Accepted]
  • 922 View
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Original Article
Clinical and structural characteristics of NEU1 variants causing sialidosis type 1
Yingji Li, Yang Liu, Rongfei Wang, Ran Ao, Feng Xiang, Xu Zhang, Xiangqing Wang, Shengyuan Yu
Received July 27, 2023  Accepted April 9, 2024  Published online April 11, 2024  
DOI: https://doi.org/10.14802/jmd.23145    [Accepted]
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AbstractAbstract PDF
Purpose
Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying NEU1 variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods
First, whole-exome sequencing and detailed clinical examination were performed on the family. Second, structural analysis, including energy, flexibility and polar contacts, was conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.
Results
We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by sialidase activity assay. The cherry-red spot was more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal EEGs and VEPs had a relatively early age of onset, whereas patients with myoclonus had a late onset.
Conclusion
Changes in flexibility and local polar contacts may be indicators of the NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.
Review Article
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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AbstractAbstract 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.
Letter to the editor
Haloperidol in managing DYT-TOR1A Dystonia: Unveiling a Dramatic Therapeutic Response
Pavankumar Katragadda, Vikram V Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Received February 3, 2024  Accepted April 5, 2024  Published online April 9, 2024  
DOI: https://doi.org/10.14802/jmd.24029    [Accepted]
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Brief communication
Evaluating the validity and reliability of the Korean version of Scales for Outcomes in Parkinson’s Disease–Cognition
Jinse Park, Eung Seok Oh, Seong-Beom Koh, In-Uk Song, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Yun Joong Kim, Jin Whan Cho, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim, Ji-Young Kim
Received March 8, 2024  Accepted April 2, 2024  Published online April 3, 2024  
DOI: https://doi.org/10.14802/jmd.24061    [Accepted]
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AbstractAbstract PDF
Objective
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to screen for cognition in PD. In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPA-cog.
Methods
We recruited 129 PD patients from 31 clinics with movement disorders in South Korea. The original version of the SCOPA-cognition was translated into Korean using the translation-retranslation method. The test-rest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. The Spearman’s Rank correlation analysis with Montreal Cognitive Assessment-Korean version (MOCA-K) and Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity.
Results
The Cronbach’s alpha coefficient was 0.797, and the ICC was 0.887. Spearman’s rank correlation analysis showed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusions
Our results demonstrate that K-SCOPA-Cog exhibits good reliability and validity.
Letter to the editor
Comments on “Absence of Alpha-Synuclein Aggregation in Patients With Parkinson’s Disease Complicated by Sigmoid Volvulus”
Sabri Selcuk Atamanalp, Refik Selim Atamanalp
J Mov Disord. 2024;17(2):248-249.   Published online March 29, 2024
DOI: https://doi.org/10.14802/jmd.24078
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