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

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

Original Articles
The Impact of LRRK2 G2019S on Parkinson’s 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-Berrechid, Riadh Gouider
Received December 30, 2023  Accepted April 19, 2024  Published online April 23, 2024  
DOI: https://doi.org/10.14802/jmd.23276    [Epub ahead of print]
  • 821 View
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AbstractAbstract PDFSupplementary Material
Objective
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 remain elusive. Therefore, we investigated the clinical features, treatments, and complications of PD in Tunisian patients according to their LRRK2-G2019S profile.
Methods
This longitudinal retrospective study was performed in the Department of Neurology, Razi University Hospital. We included clinically diagnosed PD patients according to the Movement Disorders Society criteria and reviewed their medical records for clinical, treatment, and neuropsychological assessments. All patients were screened for the LRRK2-G2019S mutation using Sanger sequencing. The correlation between LRRK2-G2019S and clinical PD features was evaluated.
Results
We included 393 PD patients, 41.5% of whom had LRRK2-G2019S mutations. Patients with mutations were younger (p = 0.017), and female PD patients had a greater mutation frequency (p = 0.008). Mutation carriers exhibited distinct clinical features, with a greater frequency of postural instability gait difficulty forms (adjusted-p < 0.001). During disease progression, carriers showed a faster annual progression in the Unified Parkinson’s Disease Rating Scale Section III scores (adjusted-p = 0.009), and significantly higher levodopa equivalent dose values 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 the later stages. LRRK2-G2019S carriers also exhibited a lower prevalence of non-motor symptoms, including episodic memory (adjusted-p < 0.001), attention (adjusted-p < 0.001), and dysexecutive disorders (adjusted-p = 0.038), as well as neuropsychiatric symptoms and dysautonomic signs.
Conclusion
The present study demonstrated that the variability of the clinical profile among Tunisian PD patients was explained by the incomplete penetrance of LRRK2-G2019S, which increased with age. Further studies using biomarker and disease progression data are necessary to improve PD management.
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    [Epub ahead of print]
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AbstractAbstract PDFSupplementary Material
Objective
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 N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods
First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were 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 a sialidase activity assay. Cherry-red spots were 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 electroencephalographies and visual evoked potentials 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 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.
Trends in Physiotherapy Interventions and Medical Costs for Parkinson’s Disease in South Korea, 2011–2020
Dong-Woo Ryu, Jinse Park, Myung Jun Lee, Dallah Yoo, Sang-Myung Cheon
Received December 22, 2023  Accepted March 18, 2024  Published online March 19, 2024  
DOI: https://doi.org/10.14802/jmd.23269    [Epub ahead of print]
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AbstractAbstract PDFSupplementary Material
Objective
Physiotherapy (PT), which is an effective strategy for managing Parkinson’s disease (PD), can influence health care utilization. We analyzed trends in health care utilization, PT interventions, and medical costs among patients with PD.
Methods
Using data from the Korean National Health Insurance Service from 2011 to 2020, we analyzed the number of patients with PD and their health care utilization and assessed the odds ratio (OR) for receiving regular PTs.
Results
Over 10 years, 169,613 patients with PD were included in the analysis. The number of patients with PD increased annually from 49,417 in 2011 to 91,841 in 2020. The number of patients with PD receiving PT increased from 4,847 (9.81%) in 2011 to 13,163 (14.33%) in 2020, and the number of PT prescriptions increased from 81,220 in 2011 to 377,651 in 2019. Medical costs per patient with PD increased from 1,686 United States dollars (USD) in 2011 to 3,202 USD in 2020. The medical expenses for each patient with PD receiving PT increased from 6,582 USD in 2011 to 13,475 USD in 2020. Moreover, regular PTs were administered to 31,782 patients (18.74%) and were administered only through hospitalization. Those patients in their 50s with disabilities demonstrated a high OR for regular PTs, whereas those aged 80 years or older and residing outside of Seoul had a low OR.
Conclusion
The PD burden increased in South Korea between 2011 and 2020, as did health care utilization and medical costs. A significant increase in medical expenses can be associated with increased PD incidence and PT interventions. Regular PT applications remain restricted and have barriers to access.
Letters to the editor
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    [Epub ahead of print]
  • 612 View
  • 21 Download
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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    [Epub ahead of print]
  • 908 View
  • 20 Download
PDF
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    [Epub ahead of print]
  • 577 View
  • 40 Download
PDFSupplementary Material
Knowledge, Attitudes and Perceptions of Genetic Testing Among Patients With Movement Disorders, Their Caregivers and Health Care Professionals
Sneha D. Kamath, Vikram V. Holla, Nitish Kamble, Rohan R. Mahale, Ravi Yadav, Pramod Kumar Pal
Received February 10, 2024  Accepted March 27, 2024  Published online March 27, 2024  
DOI: https://doi.org/10.14802/jmd.24034    [Epub ahead of print]
  • 434 View
  • 29 Download
PDFSupplementary Material
Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism
Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee
Received December 29, 2023  Accepted March 27, 2024  Published online March 27, 2024  
DOI: https://doi.org/10.14802/jmd.23275    [Epub ahead of print]
  • 668 View
  • 36 Download
PDFSupplementary Material
Therapeutic Strategy for Improving Motor Complications of Parkinson’s Disease: Short-Term Levodopa–Carbidopa Intestinal Gel Therapy Using a Nasogastric Tube
Soutarou Taguchi, Takahiro Nakura, Manabu Doyu, Hidemoto Saiki
Received February 8, 2024  Accepted March 20, 2024  Published online March 21, 2024  
DOI: https://doi.org/10.14802/jmd.24033    [Epub ahead of print]
  • 545 View
  • 40 Download
PDF
Brief communications
Evaluating the Validity and Reliability of the Korean Version of the Scales for Outcomes in Parkinson’s Disease–Cognition
Jinse Park, Eungseok Oh, Seong-Beom Koh, In-Uk Song, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Yoon-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 Seon Kim, Ji Young Yun, Hee Jin Kim, Jin Yong Hong, Mi-Jung Kim, Jinyoung Youn, 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    [Epub ahead of print]
  • 763 View
  • 40 Download
AbstractAbstract PDFSupplementary Material
Objective
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to assess cognition in patients with Parkinson’s disease (PD). In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPACog (K-SCOPA-Cog).
Methods
We enrolled 129 PD patients with movement disorders from 31 clinics in South Korea. The original version of the SCOPA-Cog was translated into Korean using the translation-retranslation method. The test–retest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. Spearman’s rank correlation analysis with the Montreal Cognitive Assessment-Korean version (MOCA-K) and the 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 revealed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusion
Our results demonstrate that the K-SCOPA-Cog has good reliability and validity.
COVID-19 Vaccine-Related Movement Disorders: A Systematic Review
Grace Elysse D. Angeles, Lowrence Precious C. Dichoso, Roland Dominic G. Jamora
Received January 2, 2024  Accepted March 18, 2024  Published online March 19, 2024  
DOI: https://doi.org/10.14802/jmd.24001    [Epub ahead of print]
  • 1,141 View
  • 79 Download
  • 2 Comments
AbstractAbstract PDFSupplementary Material
Objective
Since the release of vaccines against coronavirus disease 2019 (COVID-19), there have been reports of vaccine-related neurologic complications. This study aimed to perform a descriptive systematic review of movement disorders associated with COVID-19 vaccines.
Methods
We described the demographics, clinical presentation, management, outcomes, and proposed pathomechanism of the patients. A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A standardized tool was used to assess the quality of the cases.
Results
We identified 8 articles that met our inclusion criteria; these articles included 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most patients respond to immunotherapy. The standardized tool used showed that most studies had a low risk of bias.
Conclusion
The reported incidence of vaccine-related movement disorders was low based on available published cases.
Viewpoint
Neurological Perspectives Should Be Integrated Into the Management of Tardive Dyskinesia—Expert Opinions 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    [Epub ahead of print]
  • 1,080 View
  • 74 Download
PDFSupplementary Material

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