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Original Articles
Effectiveness of live-streaming tele-exercise intervention in patients with Parkinson’s disease: A pilot study
Jongmok Ha, Jung Hyun Park, Jun Seok Lee, Hye Young Kim, Ji One Song, Jiwon Yoo, Jong Hyeon Ahn, Jinyoung Youn, Jin Whan Cho
Received November 29, 2023  Accepted February 29, 2024  Published online February 29, 2024  
DOI: https://doi.org/10.14802/jmd.23251    [Accepted]
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AbstractAbstract PDF
Introduction
Exercise can improve both motor and non-motor symptoms in people with Parkinson’s disease (PwP), but there is an unmet need of accessible and sustainable exercise options. This study aimed to evaluate the effect, feasibility, and safety of a regularly performed live-streaming tele-exercise intervention for PwP.
Methods
A live-streaming exercise intervention was implemented twice a week for 12 weeks in PwP. We measured the motor and nonmotor scales in these patients before and after the intervention. Changes in clinical scores from baseline to post-intervention were analyzed using a paired t-test. Factors associated with improvements in clinical scales and compliance were analyzed using Pearson’s correlation analysis.
Results
56 participants were enrolled in the study. There were significant improvements in HADS-A (p = 0.007), HADS-D (p < 0.001), UPDRS part III (p < 0.001), UPDRS total (p = 0.015), H&Y stage (p = 0.027), and PFS-16 (p = 0.026) scores following intervention. Motor improvements were associated with improvements in mood symptoms and fatigue. Higher motor impairment at baseline was associated with a higher compliance rate and better composite motor and non-motor outcomes (ΔUPDRS total score) post-intervention. Overall, the 12-week tele-exercise program was feasible and safe for PwP. No adverse event was reported. Overall adherence was 60.0% in our cohort, and 83.4% were able to participate in more than half of the exercise routines.
Conclusion
The live-streaming tele-exercise intervention is a safe, feasible, and effective non-pharmacological treatment option that can alleviate fatigue and improve mood and motor symptoms in PwP.
High levels of mutant huntingtin protein in tear fluid from Huntington’s Disease Gene Expansion Carriers
Marlies Gijs, Nynke Jorna, Nicole Datson, Chantal Beekman, Cira Dansokho, Alexander Weiss, David E J Linden, Mayke Oosterloo
Received January 18, 2024  Accepted February 21, 2024  Published online February 21, 2024  
DOI: https://doi.org/10.14802/jmd.24014    [Accepted]
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AbstractAbstract PDF
Objective
Huntington's disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in mid-life. HD is caused by a CAG repeat expansion in the HTT gene, resulting in the expression of mutant huntingtin (mHTT). Our aim was to detect and quantify mHTT in tear fluid, which to our knowledge has never been measured before.
Methods
We recruited 20 manifest, 13 premanifest HD gene expansion carriers (HDGECs) and 20 age-matched controls. All patients underwent detailed assessments, including Unified Huntington’s Disease Rating Scale (UHDRS) total motor score (TMS) and total function capacity score. Tear fluid was collected using paper Schirmer’s strips. The level of tear mHTT was determined using the Single Molecule Counting SMCxPRO technology.
Results
Average tear mHTT levels in manifest (67,223 ± 80,360 fM) and premanifest patients (55,561 ± 45,931 fM) were significantly higher than in controls (1622 ± 2179 fM). We noted significant correlations between tear mHTT levels and CAG repeat length, ‘estimated years to diagnosis’, disease burden score and UHDRS TMS and TFC. The ROC curve demonstrated an almost perfect score (AUC = 0.9975) when comparing controls to manifest patients. Similarly, the AUC between controls and premanifest patients was 0.9846. The optimal cut-off value to distinguish between controls and manifest patients was 4544 fM, whereas it was 6596 fM for the distinction between controls and premanifest patients.
Conclusions
Tear mHTT levels have the potential for early and non-invasive detection of alterations in HD and could be integrated into both clinical trials and clinical diagnostics.
Comparing MoCA Performance in Parkinson’s disease: Age and Education-Adjusted Cutoffs vs. Machine Learning
Kyeongmin Baek, Young Min Kim, Han Kyu Na, Junki Lee, Dong Ho Shin, Seok-Jae Heo, Seok Jong Chung, Kiyong Kim, Phil Hyu Lee, Young H Sohn, Jeehee Yoon, Yun Joong Kim
Received December 23, 2023  Accepted February 12, 2024  Published online February 13, 2024  
DOI: https://doi.org/10.14802/jmd.23271    [Accepted]
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AbstractAbstract PDF
Background
and Objectives The Montreal Cognitive Assessment (MoCA) is recommended for general cognitive evaluation in Parkinson’s Disease (PD). However, age- and education-adjusted cutoffs specifically for PD have not been developed and systematically validated across PD cohorts with diverse education levels.
Methods
This retrospective analysis utilized data from 1,293 Korean patients with PD, where cognitive diagnoses were determined through comprehensive neuropsychological assessments. Age- and education-adjusted cutoffs were formulated based on 1,202 patients with PD. To identify the optimal machine learning model, clinical parameters and MoCA domain scores from 416 patients with PD were used. Comparative analyses between machine learning and different cutoffs were conducted on an additional 91 consecutive patients with PD.
Results
The cutoffs for cognitive impairment decrease with advancing age within the same education level. Similarly, lower education levels within the same age group correspond to lower cutoffs. For individuals aged 60–80, cutoffs were set as follows: 25 or 24 for those with over 12 years of education, 23 or 22 for 10–12 years, and 21 or 20 for 7–9 years. Comparisons between age- and education-adjusted cutoffs and the machine learning method showed comparable accuracies. The cutoff method demonstrated higher sensitivity (0.8627), whereas machine learning achieved higher specificity (0.8250).
Conclusions
Both the age- and education-adjusted cutoff method and machine learning demonstrated high effectiveness in detecting cognitive impairment in PD. This study highlights the necessity of tailored cutoffs and suggests the potential of machine learning to enhance cognitive assessments in PD.
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect
Amina NASRI, Ikram SGHAIER, Anis NEJI, Alya GHARBI, Youssef ABIDA, Saloua MRABET, Amina GARGOURI, Mouna BEN DJEBARA, Imen KACEM, Riadh GOUIDER
Received September 9, 2023  Accepted January 30, 2024  Published online January 30, 2024  
DOI: https://doi.org/10.14802/jmd.23178    [Accepted]
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AbstractAbstract PDF
Objectives
Progressive supranuclear palsy (PSP)is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits.We aimed to study motor and cognitive characteristics across PSP phenotypes,and assess the influence of the Apolipoprotein E (APOE)gene variants on PSP phenotypic expression.
Materials and Methods
In 20-year-cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP and re-categorized them into phenotypes using the MDS-2017 criteria. Phenotypes were divided into three subgroups based on the clinical presentation during the first 3 years after symptoms’ onset, which defines the early disease stage:Richardson’s syndrome (PSP-RS), PSP-cortical (PSP-F+PSP-SL+PSP-CBS) and PSP-subcortical(PSP-P+PSP-PGF+PSP-PI+PSP-OM+PSP-C+PSP-PLS).Data on clinical and neuropsychological assessments were collected.Genotyping of APOE was performed using the RFLP-PCR and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48PSP-RS, 34PSP-cortical(17.6%PSP-CBS,9.4%PSP-F,8.2%PSP-SL)and 30 PSP-subcortical(11.6%PSP-P,8%PSP-PI, 2.6%PSP-OM,1.8%PSP-PGF,1.8%PSP-C,0.9%PSP-PLS) subgroups. PSP-RS cases had older age of onset(p=0.009)and more akinetic-rigid and levodopa resistant parkinsonism(p=0.006),while PSP-cortical cases had more tremor and asymmetric and/or levodopa responsive parkinsonism(p=0.025).Cognitive domains were significantly less altered among PSP-subcortical subgroup.Overall,PSP-APOEε4 carriers developed parkinsonism earlier (p=0.019),had earlier oculomotor dysfunction(p=0.052) and more altered cognitive profile.It was also associated with younger age of parkinsonism onset in PSP-RS phenotype(p=0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians.Later disease onset and akinetic-rigid and levodopa resistant parkinsonism were the hallmarks of PSP-RS phenotype,while milder cognitive impairment was characteristic of PSP-subcortical subgroup.APOEε4 allele was associated to earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.
Case Report
Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry
Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng
Received January 7, 2024  Accepted January 30, 2024  Published online January 31, 2024  
DOI: https://doi.org/10.14802/jmd.24009    [Accepted]
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AbstractAbstract PDF
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly also Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This is exemplified by the involvement of the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase, and is currently the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease type A and B. Here, we provide the first report on an association between a loss-of-function SMPD1 gene variant present in heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.
Letters to the editor
The first Indian patient with benign hereditary chorea due to a de novo mutation in the NKX2-1 gene
Divyani Garg, Ayush Agarwal, Mohammed Faruq, Achal Kumar Srivastava
Received December 28, 2023  Accepted February 29, 2024  Published online February 29, 2024  
DOI: https://doi.org/10.14802/jmd.23273    [Accepted]
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A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
Giulia Di Rauso, Francesco Cavallieri, Edoardo Monfrini, Alessandro Fraternali, Valentina Fioravanti, Sara Grisanti, Annalisa Gessani, Isabella Campanini, Andrea Merlo, Giulia Toschi, Manuela Napoli, Rosario Pascarella, Rosamaria Silipigni, Palma Finelli, Jefri J Paul, Peter Bauer, Annibale Versari, Alessio Di Fonzo, Franco Valzania
Received October 29, 2023  Accepted January 23, 2024  Published online January 23, 2024  
DOI: https://doi.org/10.14802/jmd.23222    [Accepted]
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Meige syndrome as a craniofacial type of dystonia treatable by dual dopaminergic modulation using L-DOPA/chlorpromazine: a case report
Shinichi Matsumoto, Satoshi Goto
Received December 14, 2023  Accepted January 22, 2024  Published online January 23, 2024  
DOI: https://doi.org/10.14802/jmd.23265    [Accepted]
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Hemimasticatory Spasm Treated with Muscle Afferent Block Therapy and Occlusal Splint
Kazuya Yoshida
Received November 28, 2023  Accepted January 13, 2024  Published online January 15, 2024  
DOI: https://doi.org/10.14802/jmd.23249    [Accepted]
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JMD : Journal of Movement Disorders