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Original Articles
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.
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.
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    [Accepted]
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AbstractAbstract PDF
Objective
Physiotherapy (PT), an effective strategy for managing Parkinson’s disease (PD), can influence healthcare utilization. We analyzed trends in healthcare 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 healthcare utilization and assessed the odds ratio (OR) for receiving regular PTs.
Results
Over 10 years, 169,613 patients with PD were present. The number of patients with PD increased annually from 49,417 in 2011 to 91,841 in 2020. Patients with PD receiving PT increased from 4,847 (9.81%) in 2011 to 13,163 (14.33%) in 2020, and PT prescriptions increased from 81,220 in 2011 to 377,651 in 2019. Medical costs per patient with PD have increased from 1,686 United States Dollars (USD) in 2011 to 3,201 USD in 2020. Medical expenses for each patient with PD receiving PT increased from 6,581 USD in 2011 to 13,476 USD in 2020. Moreover, Regular PTs were administered to 31,782 patients (18.74%) and conducted only through hospitalization. Those in their 50s with disabilities demonstrated a high OR for regular PTs, while those aged 80 years or older and residing outside Seoul had a low OR.
Conclusions
The PD burden increased in South Korea between 2011 and 2020, including an increase in healthcare utilization and medical costs. The significant rise in medical expenses can be associated with increased PD prevalence and PT interventions. Regular PT applications remain restricted and have barriers to access.
Letters to the editor
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]
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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]
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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]
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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]
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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    [Accepted]
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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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Knowledge, attitude and perception of genetic testing in patients with movement disorders, their caregivers and health care professionals
Sneha 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    [Accepted]
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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    [Accepted]
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Therapeutic Strategy for Improving Motor Complications of Parkinson’s Disease: Short-term Levodopa–carbidopa Intestinal Gel Therapy using a Nasogastric Tube
TAGUCHI Soutarou, NAKURA Takahiro, DOYU Manabu, SAIKI Hidemoto
Received February 8, 2024  Accepted March 20, 2024  Published online March 21, 2024  
DOI: https://doi.org/10.14802/jmd.24033    [Accepted]
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Brief communications
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.
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    [Accepted]
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AbstractAbstract PDF
Objectives
Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic review of movement disorders associated with COVID-19 vaccines.
Methods
We described the demographics, clinical presentation, management, outcomes, and proposed patho-mechanism. A systematic review was performed according to the PRISMA guidelines. A standardized tool was used to assess the quality of the cases.
Results
We have identified 8 articles that met our inclusion criteria consisting of 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 cases responded with immunotherapy. The standardized tool used showed that most studies have a low risk of bias.
Conclusion
The reported incidence of vaccine-related movement disorders was low in occurrence based on available published cases that were found.
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]
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