Journal of Movement Disorders

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.

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.

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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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.

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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Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson’s Disease: Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Donghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim; Received May 19, 2024 Accepted July 8, 2024 Published online July 9, 2024; DOI: https://doi.org/10.14802/jmd.24120 [Epub ahead of print]

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Abstract PDF: 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.

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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Functional Movement Disorders: Updates and Clinical Overview: Jung E Park; J Mov Disord. 2024;17(3):251-261. Published online July 1, 2024; DOI: https://doi.org/10.14802/jmd.24126

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Abstract PDF: Functional movement disorder (FMD) is a type of functional neurological disorder that is common but often difficult to diagnose or manage. FMD can present as various phenotypes, including tremor, dystonia, myoclonus, gait disorders, and parkinsonism. Conducting a clinical examination appropriate for assessing a patient with suspected FMD is important, and various diagnostic testing maneuvers may also be helpful. Treatment involving a multidisciplinary team, either outpatient or inpatient, has been found to be most effective. Examples of such treatment protocols are also discussed in this review. While recognition and understanding of the disorder has improved over the past few decades, as well as the development of treatments, it is not uncommon for patients and physicians to continue to experience various difficulties when dealing with this disorder. In this review, I provide a practical overview of FMD and discuss how the clinical encounter itself can play a role in patients’ acceptance of the diagnosis. Recent neuroimaging studies that aid in understanding the pathophysiology are also discussed.

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.

Potential Psychosis Induced by a Sustained High Plasma Levodopa Concentration Due to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson’s Disease: A Case Report: Toshiki Tezuka, Tomonori Nukariya, Yuta Kizuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki; Received May 13, 2024 Accepted June 28, 2024 Published online June 28, 2024; DOI: https://doi.org/10.14802/jmd.24114 [Epub ahead of print]

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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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Olfactory and Gustatory Function in Early-Stage Parkinson’s Disease: Implications for Cognitive Association: 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; Received November 20, 2023 Accepted June 27, 2024 Published online June 27, 2024; DOI: https://doi.org/10.14802/jmd.23243 [Epub ahead of print]

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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.

Association Between Exposure to Particulate Matter and the Incidence of Parkinson’s Disease: A Nationwide Cohort Study in Taiwan: Ting-Bin Chen, Chih-Sung Liang, Ching-Mao Chang, Cheng-Chia Yang, Hwa-Lung Yu, Yuh-Shen Wu, Winn-Jung Huang, I-Ju Tsai, Yuan-Horng Yan, Cheng-Yu Wei, Chun-Pai Yang; J Mov Disord. 2024;17(3):313-321. Published online June 18, 2024; DOI: https://doi.org/10.14802/jmd.24003

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Abstract PDF: Objective
Emerging evidence suggests that air pollution exposure may increase the risk of Parkinson’s disease (PD). We aimed to investigate the association between exposure to fine particulate matter (PM2.5) and the risk of incident PD nationwide.
Methods
We utilized data from the Taiwan National Health Insurance Research Database, which is spatiotemporally linked with air quality data from the Taiwan Environmental Protection Administration website. The study population consisted of participants who were followed from the index date (January 1, 2005) until the occurrence of PD or the end of the study period (December 31, 2017). Participants who were diagnosed with PD before the index date were excluded. To evaluate the association between exposure to PM2.5 and incident PD risk, we employed Cox regression to estimate the hazard ratio and 95% confidence interval (CI).
Results
A total of 454,583 participants were included, with a mean (standard deviation) age of 63.1 (9.9) years and a male proportion of 50%. Over a mean follow-up period of 11.1 (3.6) years, 4% of the participants (n = 18,862) developed PD. We observed a significant positive association between PM2.5 exposure and the risk of PD, with a hazard ratio of 1.22 (95% CI, 1.20–1.23) per interquartile range increase in exposure (10.17 μg/m³) when adjusting for both SO₂ and NO₂.
Conclusion
We provide further evidence of an association between PM2.5 exposure and the risk of PD. These findings underscore the urgent need for public health policies aimed at reducing ambient air pollution and its potential impact on PD.

The First East Asian Patient With Parkinson’s Disease Caused by the A53E SNCA Mutation With Early Progression to Dementia: Yeo Jun Yoon, Chan Wook Park, Jin Ju Kim, Seok Jong Chung, Yun Joong Kim; J Mov Disord. 2024;17(3):364-367. Published online June 13, 2024; DOI: https://doi.org/10.14802/jmd.24118

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