Journal of Movement Disorders

Adjustability of gait speed in clinics and free-living environments in people with Parkinson’s disease: Yuki Nishi, Shintaro Fujii, Koki Ikuno, Yuta Terasawa, Shu Morioka; Received July 18, 2024 Accepted September 23, 2024 Published online September 23, 2024; DOI: https://doi.org/10.14802/jmd.24167 [Accepted]

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Abstract PDF: Objective
Gait speed is regulated by varying gait parameters depending on the diverse contexts of the environment. People with Parkinson’s disease (PwPD) have difficulty in adapting to gait control in their environment; however, the relationship between gait speed and spatiotemporal parameters in free-living environments has not been clarified. This study aimed to compare gait parameters according to gait speed in clinics and free-living environments.
Methods
PwPD were assessed at the clinic and in a free-living environment using an accelerometer on the lower back. By fitting a bimodal Gaussian model to the gait speed distribution, gait speed was divided into lower and higher speeds. We compared the spatiotemporal gait parameters using a 2×2 (environment [clinic/free-living] × speed [lower/higher]) repeated-measures analysis of variance. Associations between Parkinson’s disease symptoms and gait parameters were evaluated using Bayesian Pearson’s correlation coefficients.
Results
In the 41 PwPD included in this study, spatiotemporal gait parameters were significantly worse in free-living environments than in clinics and at lower speeds than at higher speeds. The fit of the walking speed distribution to the bimodal Gaussian model (adjustability of gait speed) in free-living environments was related to spatiotemporal gait parameters, severity of Parkinson’s disease, number of falls, and quality of life.
Conclusions
The findings suggest that gait control, which involves adjusting gait speed according to context, differs between clinics and free-living environments in PwPD. Gait assessment for PwPD in both clinical and free-living environments should interpret gait impairments in a complementary manner.

Effect of positional change on cerebral perfusion in Parkinson’s disease with orthostatic hypotension: Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn; Received May 1, 2024 Accepted September 7, 2024 Published online September 9, 2024; DOI: https://doi.org/10.14802/jmd.24104 [Accepted]

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Abstract PDF: Objective
Orthostatic hypotension (OH) is one of the most common autonomic dysfunctions in Parkinson’s disease (PD) patients. However, many patients with OH are asymptomatic. Conversely, orthostatic dizziness (OD) is not always associated with OH. We investigated the effect of positional changes on cerebral perfusion in patients with PD and OH.
Methods
We enrolled 43 patients, of whom 31 were PD patients and 11 were healthy controls (HC). All subjects underwent the following clinical assessments: OH Questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (Δ Hboxy) during the squat-to-stand test (SST), measurement of the time derivative of total hemoglobin (DHbtot), and time taken to reach the peak (peak time, PT) of DHbtot after re-standing.
Results
The mean flow velocity change (ΔMFV) in the TCD during the HUTT failed to differentiate between the PD-OH(+) and PD-OH(-) groups. The change in oxygenated hemoglobin Δ Hboxy was greater in the PD-OH(+) group, which persisted for 9 min until the end of the HUTT only in the left hemisphere. During SST, PT was significantly delayed in PD-OH (+) in the left hemisphere.
Conclusion
Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by NIRS, such as Δ Hboxy during HUTT and PT during SST, showed significantly increased Δ Hboxy or delayed PT in the left hemisphere of PD-OH(+). Positional changes have a detrimental effect on cerebral hemodynamics in patients with PD and OH, especially in the left hemisphere.

Pain characteristics of Parkinson’s disease using validated Arabic versions of the King’s Parkinson’s Disease Pain Scale and Questionnaire: A Multicenter Egyptian Study: Ali Shalash, Salma R Mohamed, Marwa Y Badr, Shimaa Elgamal, Shaimaa A. Elaidy, Eman E. Elhamrawy, Hayam Abdel-Tawab, Haidy Elshebawy, Heba Mohamed, Tamer Roushdy, Wafik S. Bahnasy, Haitham H. Salem, Ehab A.El-Seidy, Hatem S Shehata, Hazem Marouf, K Ray Chaudhuri, Eman Hamid; Received April 9, 2024 Accepted June 25, 2024 Published online June 25, 2024; DOI: https://doi.org/10.14802/jmd.24088 [Accepted]

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Abstract PDF: Objective
Pain is one of the most common non-motor symptoms in Parkinson’s disease (PD), with variable characteristics among populations. This multicenter Egyptian study aimed to translate and validate the King’s Parkinson’s Disease Pain Scale (KPPS) and questionnaire (KPPQ) into Arabic versions and to investigate the pain characteristics in Egyptian people with PD (PWP).
Methods
192 PWP and 100 sex and age-matched controls were evaluated by KPPS-Arabic and KPPQ-Arabic. Both tools were assessed for test-retest reliability, floor or ceiling effects, construct validity and convert validity. PWP were assessed also by MDS-UPDRS, Hoehn and Yahr, NMSS, PD Questionnaire-39, and the Non-Motor Fluctuation Assessment (NoMoFA).
Results
KPPS-Arabic and KPPQ-Arabic showed inter and intra-rater consistency and high validity, with an acceptable ceiling effect. 188 PWP (97.9%) reported at least 1 type of pain, (p<0.001). The severity and prevalence of KPPS-Arabic domains were significantly higher in all pain domains among PWP compared to controls (p < 0.001). Fluctuation-related and musculoskeletal pains were the most common (81.3% and 80.7%, respectively). In the PD group, the total and domains of KPPS-Arabic were significantly correlated to the MDS-UPDRS total, parts I, II, III, PIGD, axial, and H &Y scores, but not age or age of onset. Predictors of KPPS-Arabic included the total MDS-UPDRS, part III-Off, disease duration, total NMSS, and NoMoFA.
Conclusion
The current multicentre study provided a validated Arabic versions of KPPS and KPPQ, with high reliability and validity, and demonstrated a high prevalence and severity of pain within Egyptian PWP and characterized its determinants.

Evidence-based review on symptomatic management of Huntington’s disease: Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim; Received June 22, 2024 Accepted August 9, 2024 Published online August 9, 2024; DOI: https://doi.org/10.14802/jmd.24140 [Accepted]

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Abstract PDF: Huntington's disease (HD) is a neurodegenerative disorder with a significant impact on patients' quality of life, characterized by motor, behavioral, and cognitive impairments. This evidence-based review, conducted by the Korean Huntington Disease Society (KHDS) task force, systematically examines current pharmacological and non-pharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022, focusing on 23 symptoms across four domains: motor, neuropsychological, cognition, and others. This review provides a comprehensive and systematic approach to the management of HD, highlighting the need for more high-quality clinical trials to develop robust evidence-based guidelines.

Myoclonic Epilepsy of Unverricht and Lundborg in a Filipino Woman: Kruzette Khloe L. Solijon, Sheina B. Magtuba, Noel Belonguel, Gerard Saranza; Received August 2, 2024 Accepted October 7, 2024 Published online October 7, 2024; DOI: https://doi.org/10.14802/jmd.24172 [Accepted]

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Goal Attainment Scale Refine Patient-Centred Expectations in Botulinum Toxin Treatment of Cervical Dystonia: Pattamon Panyakaew, Piyanat Wongwan, Roongroj Bhidayasiri; Received June 30, 2024 Accepted September 20, 2024 Published online September 23, 2024; DOI: https://doi.org/10.14802/jmd.24150 [Accepted]

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Optimal measuring height and validation of 2D-LiDAR based analysis system for spatiotemporal gait parameters: Seungki Woo, Chaewon Shin, Min Young Kim; Received June 14, 2024 Accepted August 21, 2024 Published online August 21, 2024; DOI: https://doi.org/10.14802/jmd.24134 [Accepted]

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NBR and GBA Genes Methylation Levels in Peripheral Blood of Parkinson's Patients: Yagmur Inalkac Gemici, Ahmet Koc; Received May 9, 2024 Accepted July 19, 2024 Published online July 22, 2024; DOI: https://doi.org/10.14802/jmd.24111 [Accepted]

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Masquerading as Charcot-Marie-Tooth (CMT) Disease: A Case Study and Literature Review of Korean Patients: Yongmoo Kim, Seungbok Lee, Jae So Cho, Jihoon G Yoon, Sheehyun Kim, Man Jin Kim, Jong Hee Chae, Manho Kim, Jangsup Moon; Received March 3, 2024 Accepted July 8, 2024 Published online July 9, 2024; DOI: https://doi.org/10.14802/jmd.24054 [Accepted]

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Thalamic deep brain stimulation for SPG-56 related focal hand dystonia: Momo Uchida, Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Shinichi Tokushige, Takakazu Kawamata, Takaomi Taira; Received January 27, 2024 Accepted June 26, 2024 Published online June 27, 2024; DOI: https://doi.org/10.14802/jmd.24022 [Accepted]

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Monitoring cognitive functions during deep brain stimulation (DBS) interventions by Real Time Neuropsychological Testing (DBS-RTNT): Ilaria Guarracino, Christian Lettieri, Massimo Mondani, Stanislao D’Auria, Giovanni Sciacca, Flavia Lavezzi, Miran Skrap, Serena D’Agostini, Gian Luigi Gigli, Mariarosaria Valente, Barbara Tomasino; Received April 29, 2024 Accepted September 20, 2024 Published online September 23, 2024; DOI: https://doi.org/10.14802/jmd.24102 [Accepted]

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Abstract PDF: Objective
We monitored cognition during Deep brain stimulation (DBS) surgery, when the electrode is positioned at the target subthalamic nucleus (i.e., STN motor area) in 14 PD patients.
Methods
We present the Real Time Neuropsychological Testing (DBS-RTNT) protocol, our preliminary experience, along with patients’ performance comparing intraoperative results with baseline data.
Results
Compared to baseline, DBS-RTNT in the target area showed a significantly decreased performance at some tasks belonging to memory and executive functions domains. Significantly decreased short-term memory and sequencing scores were found for right (vs. left) hemisphere DBS-RTNT.
Conclusions
PD patients’ performance should be monitored during DBS surgery as STN-DBS may induce changes in cognitive performance. These preliminary data contribute to improve, during DBS-surgery the anatomo-functional topography of the STN in order to identify, in future approaches, in the individual patient the best site producing positive motor effects, without causing negative cognitive and/or emotional changes. Medications (i.e., the patients underwent surgery in a levodopa off state) could in principle have influenced our results therefore future studies are needed to address possible confounding effect of levodopa use.

Clinico-genetic profile of seven patients with PARK-PINK1: A case series from a tertiary care centre from India and review of literature: Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod K Pal; Received July 8, 2024 Accepted September 17, 2024 Published online September 19, 2024; DOI: https://doi.org/10.14802/jmd.24157 [Accepted]

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Abstract PDF: Background
Recessive variants in the PINK1 gene is a known cause of early-onset Parkinson’s disease (EOPD).
Objective
To describe the clinical features and genetic profile of patients of PARK-PINK1.
Methods
Retrospective chart review of demographic, clinical and genetic details of patients carrying biallelic PINK1 variants from our database.
Result
Seven cases were recruited with median age at onset 33 years (Range: 20-49). All had asymmetrical onset, tremor in four, abnormal posturing in two and slowness in one patient. Parkinsonism phenotype was noted in six patients (with dystonia in four) and isolated dystonia in one. Among 6 patients with parkinsonism, five had rest tremor, all had good levodopa-response, and four had motor-fluctuation with choreiform-dyskinesia. Exome-sequencing revealed bi-allelic pathogenic/likely pathogenic variants in all of which five were novel.
Conclusion
PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.

Journey through ARSACS: Insights from a case series of seven patients - A single centre study and review of Indian cohort: Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal; Received July 3, 2024 Accepted August 29, 2024 Published online August 29, 2024; DOI: https://doi.org/10.14802/jmd.24154 [Accepted]

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Abstract PDF: Background
In this study we describe the clinical, and investigations profile of 7 cases of autosomal-recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS).
Methods
We performed retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed literature for reported cases of ARSACS from India.
Result
All seven patients had onset within the first-decade. As per the available data, all had walking difficulty (7/7), spastic-ataxia (7/7), classical neuroimaging findings (7/7), sensory-motor demyelinating polyneuropathy (6/6), abnormal evoked-potentials (5/5) and thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 pathogenic/likely-pathogenic unique variants (6 novel) in SACS gene. Additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

Efficacy and safety of zolpidem for musician’s dystonia: Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira; Received May 20, 2024 Accepted June 28, 2024 Published online July 1, 2024; DOI: https://doi.org/10.14802/jmd.24121 [Accepted]

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Abstract PDF: Background
The efficacy and safety of zolpidem in treating musician’s dystonia are not well understood.
Objective
We aimed to retrospectively investigate the efficacy and safety of zolpidem for musician’s dystonia.
Methods
We retrospectively reviewed medical records between January 2021 and December 2023 to identify patients with musician’s dystonia who had been prescribed zolpidem. The Tubiana’s musician’s dystonia rating scale (range, 1-5; lower scores indicating greater severity) was used to evaluate musician’s dystonia.
Results
Fifteen patients were included in this study. The mean effective dose of zolpidem was 5.3±2.0 mg. The mean effective duration of zolpidem was 4.3±1.2 h. With zolpidem administration, the Tubiana’s musician’s dystonia rating scale score significantly improved from 2.2±1.0 to 4.3±0.8 (48.9% improvement, p<0.001). Two patients (13.3%) discontinued the drug owing to unsatisfactory results or sleepiness.
Conclusion
This study suggests that zolpidem may be an alternative treatment option for musician’s dystonia.

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