Journal of Movement Disorders

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Original Article

Extraction of the pull force from inertial sensors during the pull test for Parkinson’s disease: A reliability study: Ryoma Taniuchi, Shusaku Kanai, Amane Hara, Kazuya Monden, Hiroaki Nagatani, Tsuyoshi Torii, Toshihide Harada; Received September 17, 2023 Accepted December 15, 2023 Published online December 15, 2023; DOI: https://doi.org/10.14802/jmd.23185 [Epub ahead of print]

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Abstract PDF Supplementary Material: Objective
To examine the inter- and intra-rater reliability of the pull test in patients with Parkinson’s disease (PD) using the extracted pull force.
Methods
In this inter- and intra-rater reliability study, two raters performed a pull test on 30 patients with PD. The pull force was quantified using inertial sensors attached to the rater’s right hand and the patient’s lower trunk. In this study, the pull force was calculated as an extracted three-dimensional vector quantity, the resultant acceleration, and was expressed in m/s². Inter- and intra-rater reliabilities were analyzed using the interclass correlation coefficient (ICC) for the pull force and Cohen’s weighted kappa (κw) for the pull test score. Furthermore, Bland–Altman analysis was used to investigate systematic errors.
Results
The inter- and intra-rater reliability of the pull force was very poor (ICC = 0.033–0.214). Bland–Altman analysis revealed no systematic errors in the pull forces between the two test points. Conversely, κ_w for the pull test scores ranged from 0.763 to 0.920, indicating substantial to almost perfect agreement.
Conclusion
The pull test score was reliable despite variations in the quantified pull force for inter- and intra-rater reliability. Our findings suggest that the pull test is a robust tool for evaluating postural instability in patients with PD and that the pull force probably does not affect scoring performance.

Case Report

Loss-of-Function Variant in the SMPD1 Gene 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 [Epub ahead of print]

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Abstract PDF Supplementary Material

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a 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.

Citations

Citations to this article as recorded by

Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson's Disease.2024; : 1. CrossRef

Letters to the editor

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 [Epub ahead of print]

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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 [Epub ahead of print]

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Citations

Citations to this article as recorded by

Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
Kazuya Yoshida
Frontiers in Neurology.2024;[Epub] CrossRef

Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome): Jeryl Ritzi T. Yu, Ruth H. Walker, Adrian Danek, Connie M. Westhoff, Sunitha Vege, Ilia Itin; Received October 1, 2023 Accepted January 5, 2024 Published online January 8, 2024; DOI: https://doi.org/10.14802/jmd.23196 [Epub ahead of print]

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A Rare Case of Uner Tan Syndrome With Incidentally Detected Choroid Plexus Papilloma: Uddalak Chakraborty, Adreesh Mukherjee, Amlan Kusum Datta, Atanu Biswas, Goutam Gangopadhyay; Received September 27, 2023 Accepted December 20, 2023 Published online December 21, 2023; DOI: https://doi.org/10.14802/jmd.23192 [Epub ahead of print]

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Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India: Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; Received November 5, 2023 Accepted December 16, 2023 Published online December 18, 2023; DOI: https://doi.org/10.14802/jmd.23227 [Epub ahead of print]

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Cough as a presenting symptom in Wilson’s Disease: Chun Seng Phua, Shalini Bhaskar, Kelly Bertram; Received October 26, 2023 Accepted December 8, 2023 Published online December 8, 2023; DOI: https://doi.org/10.14802/jmd.23221 [Epub ahead of print]

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Brief communication

Accessibility of Device-Aided Therapies for Persons With Parkinson’s Disease in Poland: Katarzyna Smilowska, Tomasz Pietrzykowski, K. Ray Chaudhuri, Bastiaan R. Bloem, Daniel J. van Wamelen; Received September 4, 2023 Accepted November 17, 2023 Published online November 20, 2023; DOI: https://doi.org/10.14802/jmd.23172 [Epub ahead of print]

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Abstract PDF Supplementary Material: Objective
Access to care for people with Parkinson’s disease (PD), particularly to device-aided therapies (DAT), is not equally distributed. The objective was to analyze accessibility to DAT (deep brain stimulation, intraduodenal levodopa pump therapy, and apomorphine pump therapy) in Poland.
Methods
We analyzed the distribution of DAT use in Poland by determining the number of persons with PD receiving one of the three DATs during 2015–2021.
Results
In 2021, the number of persons receiving DAT in Poland was 0.56% of the total PD population, increasing from 0.21% in 2015. Overall, deep brain stimulation was the preferred DAT in Poland, but strong regional differences in the use of the other DATs were observed. Accessibility to DAT was negatively associated with average annual income (p < 0.001).
Conclusion
Access to DAT for persons with PD in Poland is still limited, and strong regional differences in accessibility were observed, although its general increase over the last decade is encouraging.

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