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- Volume 17(4); October 2024
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Review Article
- Evidence-Based Review on Symptomatic Management of Huntington’s Disease
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Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim
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J Mov Disord. 2024;17(4):369-386. Published online August 9, 2024
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DOI: https://doi.org/10.14802/jmd.24140
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Correction in: https://doi.org/
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Abstract
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- Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive impairments and significant impacts on patient quality of life. This evidence-based review, conducted by the Korean Huntington Disease Society task force, systematically examines current pharmacological and nonpharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022 that focused 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.
Original Articles
- 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
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Ali Shalash, Salma R. Mohamed, Marwa Y. Badr, Shimaa Elgamal, Shaimaa A. Elaidy, Eman A. Elhamrawy, Hayam Abdel-Tawab, Haidy Elshebawy, Heba Samir Abdelraheem, Tamer Roushdy, Wafik S. Bahnasy, Haitham H. Salem, Ehab A. El-Seidy, Hatem S. Shehata, Hazem Marouf, K. Ray Chaudhuri, Eman Hamid
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J Mov Disord. 2024;17(4):387-397. Published online June 25, 2024
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DOI: https://doi.org/10.14802/jmd.24088
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Abstract
PDFSupplementary Material
- Objective
Pain is one of the most common nonmotor 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
A total of 192 PWP and 100 sex- and age-matched controls were evaluated by the KPPS-Arabic and KPPQ-Arabic. Both tools were assessed for test–retest reliability, floor or ceiling effects, construct validity and convert validity. PWP were also assessed by the Movement Disorders Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr scale (H&Y), Non-Motor Symptom Scale (NMSS), PD Questionnaire-39, and Non-Motor Fluctuation Assessment (NoMoFA).
Results
The KPPS-Arabic and KPPQ-Arabic showed inter- and intrarater consistency and high validity, with an acceptable ceiling effect. A total of 188 PWP (97.9%) reported at least 1 type of pain (p < 0.001). The severity and prevalence of all pain domains in the KPPS-Arabic were significantly higher among PWP than among 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 score and the scores of Parts I, II, III, postural instability gait disorder, axial, and H&Y but not with age or age of onset. The predictors of KPPS-Arabic scores included the total MDS-UPDRS, the part III-OFF, disease duration, the total NMSS, and the NoMoFA scores.
Conclusion
The current multicenter study provided validated Arabic versions of the KPPS and KPPQ, which exhibited high reliability and validity, and demonstrated a high prevalence and severity of pain within Egyptian PWP and characterized its determinants.
- Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson’s Disease
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Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
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J Mov Disord. 2024;17(4):398-407. Published online July 9, 2024
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DOI: https://doi.org/10.14802/jmd.24120
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- Objective
Vestibular-evoked myogenic potentials (VEMPs) can help in assessing otolithic neural pathway in the brainstem, which may also contribute to the cardiovascular autonomic function. Parkinson’s disease (PD) is associated with altered VEMP responses; however, the associations between VEMP abnormalities and multiple system atrophy (MSA) remain unknown. Therefore, we compared the extent of otolith dysfunction using ocular (oVEMP) and cervical VEMPs between patients with MSA and PD.
Methods
We analyzed the clinical features, VEMP, and head-up tilt table test (HUT) findings using the Finometer in 24 patients with MSA and 52 with de novo PD who had undergone neurotologic evaluation at a referral-based university hospital in South Korea from January 2021 to March 2023.
Results
MSA was associated with bilateral oVEMP abnormalities (odds ratio [95% confidence interval] = 9.19 [1.77–47.76], p = 0.008). The n1–p1 amplitude was negatively correlated with the Unified Multiple System Atrophy Rating Scale I-II score in patients with MSA (r = -0.571, p = 0.033), whereas it did not correlate with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale-III score in patients with PD (r = -0.051, p = 0.687). The n1 latency was negatively correlated with maximum changes in systolic blood pressure within 15 s during HUT in patients with PD (r = -0.335, p = 0.040) but not in those with MSA (r = 0.277, p = 0.299).
Conclusion
Bilaterally abnormal oVEMP responses may indicate the extent of brainstem dysfunction in MSA. oVEMP reflects the integrity of otolith-autonomic interplay, reliably assists in differentiating between MSA and PD, and helps infer clinical decline.
- Effect of Positional Changes on Cerebral Perfusion in Parkinson’s Disease Patients With Orthostatic Hypotension
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Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn
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J Mov Disord. 2024;17(4):408-415. Published online September 9, 2024
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DOI: https://doi.org/10.14802/jmd.24104
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Abstract
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- 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 effects of positional changes on cerebral perfusion in patients with PD and OH.
Methods
We enrolled 42 patients, comprising 31 PD patients and 11 healthy controls. All the subjects underwent the following clinical assessments: the OH questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (ΔHboxy) 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 restanding.
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 ΔHboxy 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 the left hemisphere in PD-OH(+) patients.
Conclusion
Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by near-infrared spectroscopy, such as ΔHboxy during HUTT and PT during the SST, significantly increased ΔHboxy 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.
- Adjustability of Gait Speed in Clinics and Free-Living Environments for People With Parkinson’s Disease
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Yuki Nishi, Shintaro Fujii, Koki Ikuno, Yuta Terasawa, Shu Morioka
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J Mov Disord. 2024;17(4):416-424. Published online September 23, 2024
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DOI: https://doi.org/10.14802/jmd.24167
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Abstract
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- 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 adapting to gait control in their environment; however, the relationships between gait speed and spatiotemporal parameters in free-living environments have 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.
Conclusion
The findings suggest that gait control, which involves adjusting gait speed according to context, differs between clinics and free-living environments in PwPD. Gait assessments for PwPD in both clinical and free-living environments should interpret gait impairments in a complementary manner.
Brief communications
- Efficacy and Safety of Zolpidem for Musician’s Dystonia
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Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira
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J Mov Disord. 2024;17(4):425-429. Published online July 1, 2024
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DOI: https://doi.org/10.14802/jmd.24121
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Abstract
PDFSupplementary Material
- Objective
The efficacy and safety of zolpidem for treating musician’s dystonia are not well understood. We aimed to retrospectively investigate the efficacy and safety of zolpidem for treating 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. 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, 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
The results of this study suggest that zolpidem may be an alternative treatment option for musician’s dystonia.
- Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort
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Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal
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J Mov Disord. 2024;17(4):430-435. Published online August 29, 2024
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DOI: https://doi.org/10.14802/jmd.24154
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- Objective
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).
Methods
We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
Results
All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients 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 a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An 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.
- Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature
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Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal
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J Mov Disord. 2024;17(4):436-441. Published online September 19, 2024
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DOI: https://doi.org/10.14802/jmd.24157
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Abstract
PDFSupplementary Material
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Recessive variants in the PINK1 gene are known causes of early-onset Parkinson’s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson’s disease (PARK-PINK1) mutations.
Methods
We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.
Results
A total of 7 patients whose median age at onset was 33 years (range: 20–49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which 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.
- Monitoring Cognitive Functions During Deep Brain Stimulation Interventions by Real Time Neuropsychological Testing
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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
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J Mov Disord. 2024;17(4):442-446. Published online September 23, 2024
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DOI: https://doi.org/10.14802/jmd.24102
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Abstract
PDFSupplementary Material
- Objective
We monitored cognition in 14 Parkinson’s disease (PD) patients during deep brain stimulation (DBS) surgery when the electrode was positioned at the target subthalamic nucleus (STN) (i.e., the STN motor area).
Methods
We present the DBS-real-time neuropsychological testing (DBS-RTNT) protocol and our preliminary experience with it; we also compared the intraoperative patient performance with the baseline data.
Results
Compared with the baseline data, patients undergoing DBS-RTNT in the target area demonstrated a significantly decreased performance on some tasks belonging to the memory and executive function domains. Patients undergoing right hemisphere DBS-RTNT had significantly lower short-term memory and sequencing scores than did patients undergoing left hemisphere DBS-RTNT.
Conclusion
PD patient cognitive performance should be monitored during DBS surgery, as STN-DBS may induce changes. These preliminary data contribute to improving our understanding of the anatomo-functional topography of the STN during DBS surgery, which will enable the identification of the best site for producing positive motor effects without causing negative cognitive and/or emotional changes in individual patients in the future. In principle, medications (i.e., patients who underwent surgery in a levodopa-off state) could have influenced our results; therefore, future studies are needed to address the possible confounding effects of levodopa use.
Letters to the editor
- Thalamic Deep Brain Stimulation for SPG56-Related Focal Hand Dystonia
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Momo Uchida, Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Shinichi Tokushige, Takakazu Kawamata, Takaomi Taira
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J Mov Disord. 2024;17(4):447-449. Published online June 27, 2024
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DOI: https://doi.org/10.14802/jmd.24022
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- Olfactory and Gustatory Function in Early-Stage Parkinson’s Disease: Implications for Cognitive Association
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Jeongjae Lee, Young Eun Kim, Joong Seob Lee, Suk Yun Kang, Min Seung Kim, In Hee Kwak, Jaeseol Park, Jung Yeon Nam, Hyeo-il Ma
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J Mov Disord. 2024;17(4):450-452. Published online June 27, 2024
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DOI: https://doi.org/10.14802/jmd.23243
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