Journal of Movement Disorders

Original Articles

Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy: Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo; Received May 21, 2023 Accepted September 25, 2023 Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23102 [Accepted]

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Abstract PDF: Objective
Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partly caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alteration in a PSP cohort.
Methods
We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All participants underwent peripapillary and macular optical coherence tomography. Brain ¹¹C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (¹¹C-CFT) and ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.
Results
The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL showed a significant negative relationship with the Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.
Conclusions
The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.

Emotion Recognition in Multiple System Atrophy – An exploratory Eye-Tracking Study: Victoria Sidoroff, Federico Carbone, Philipp Ellmerer, Stefanie Bair, Alexandra Hoffmann, Thomas Maran, Florian Krismer, Philipp Mahlknecht, Katherina Mair, Cecilia Raccagni, Jean-Pierre Ndayisaba, Klaus Seppi, Gregor K. Wenning, Atbin Djamshidian; Received May 1, 2023 Accepted September 24, 2023 Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23090 [Accepted]

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Abstract PDF: Objectives
Emotional processing is a core feature of social interactions and has been well studied in patients with idiopathic Parkinson’s disease (PD) with contradictory results. However, these studies excluded patients with atypical parkinsonism such as multiple system atrophy (MSA). The objective of this exploratory study was to get better insights into emotion processing in patients with MSA using an Eye-Tracker.
Methods
We included 21 MSA patients, 15 PD patients and 19 matched controls into this study. A dynamic and a static emotion recognition task was performed and fixations were analysed for different areas of interest. Participants underwent neuropsychological testing, and assessment of depression and alexithymia.
Results
MSA patients recognized anger less accurately than controls (p=0.02) and had overall less fixations compared to controls (p=0.001). In the static task, MSA had less fixations (p<0.001) and a longer time to first fixation (p=0.026) on the eye region. Furthermore, MSA had an overall longer fixation duration compared to PD (p=0.004) and longer fixation on the nose compared to controls (p=0.005). Alexithymia-scores were higher in MSA versus controls (p=0.038).
Conclusion
This study demonstrated an impaired recognition of anger in MSA compared to HCs. Fewer and later fixations to the eyes together with a centre bias suggest clinically avoidance of eye contact, which may be a characteristic gaze behaviour for MSA.

Hair loss, old and uninterested nonmotor symptom in Parkinson’s disease during dopaminergic therapy: Jungyeun Lee, Hwa Jung Ryu, Soon Young Hwang, Seong-Beom Koh; Received May 1, 2023 Accepted September 24, 2023 Published online September 26, 2023; DOI: https://doi.org/10.14802/jmd.23088 [Accepted]

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Abstract PDF: Background
Hair loss has been reported to occur during dopaminergic therapy in Parkinson’s disease. The mechanism by which dopaminergic therapy induces hair loss is not well understood. Dopamine receptors are present in the hair follicle where they regulate melanin production. However, the role of dopamine receptors in hair growth is still not well understood. Objective: This study aimed to evaluate the prevalence of hair loss and identify factors associated with complaint of hair loss in Parkinson’s disease.
Methods
A cross-sectional design was applied, involving 495 Parkinson’s disease patients to evaluate hair loss status. Patients completed a questionnaire and scalp/hair examinations were performed. Patients with underlying conditions that could affect hair loss and those prescribed medications known to increase the risk of hair loss were excluded. Finally, 291 patients (58.8%) were included for analysis.
Results
Among the total of 495 patients, 138 (27.9%) reported hair loss. Interestingly, more than half of the patients who complained of hair loss (79 out of 138) did not utilize treatments such as hair products, massage, diet modifications, or alopecia medication. Hair inspection by a single investigator revealed objective hair loss in 263 patients (53.1%). Analysis of factors associated with hair loss complaints showed that the intake of dopaminergic medication with a levodopa-equivalent daily dose >448 mg was associated with complaint of hair loss.
Conclusions
Dopaminergic medication is associated hair loss complaints in Parkinson’s disease patients.

Letters to the editor

Factors associated with anticholinergic-induced oral-buccal-lingual dyskinesia in Parkinson’s disease: Joonyoung Ha, Suk Yun Kang, Kyoungwon Baik, Young H. Sohn, Phil Hyu Lee, Min Seok Baek, Jin Yong Hong; Received April 8, 2023 Accepted September 22, 2023 Published online September 22, 2023; DOI: https://doi.org/10.14802/jmd.23069 [Accepted]

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Jaw Opening Myoclonus in Subacute Sclerosing Panencephalitis: A new phenotypic observation: Divyani Garg, Vanshika Kakkar, Suvasini Sharma; Received August 7, 2023 Accepted September 14, 2023 Published online September 14, 2023; DOI: https://doi.org/10.14802/jmd.23158 [Accepted]

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A novel pathogenic PSEN1 variant in a patient with dystonia-parkinsonism without dementia: Maria Chiara Malaguti, Alessio di Fonzo, Chiara Longo, Raffaella Di Giacopo, Costanza Papagno, Davide Donner, Umberto Rozzanigo, Edoardo Monfrini; Received June 30, 2023 Accepted September 13, 2023 Published online September 14, 2023; DOI: https://doi.org/10.14802/jmd.23125 [Accepted]

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Original Article

Caregiver burden of patients with Huntington’s disease in South Korea: Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee; Received July 19, 2023 Accepted September 8, 2023 Published online September 11, 2023; DOI: https://doi.org/10.14802/jmd.23134 [Accepted]

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Abstract PDF: Purpose
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We collected the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associates of the ZBI-12 scores by the linear regression analysis and investigated the difference between the low and high burden groups.
Results
Sixty-five patients with HD and 45 caregivers have been enrolled in this cohort study so far. The average onset of motor symptoms was 49.3±12.3 years with the average (CAG)n of 42.9±4.0 (38-65). The ZBI-12 score in our caregivers were 17.6±14.2. The higher caregiver burden was associated with the more severe Shoulson and Fahn stages (p-value=0.038) of the patients. The higher ZBI-12 score was also associated with the lower independence scale (B=-0.154, p-value=0.006) and the functional capacity (B=-1.082, p-value=0.002) of patients. The caregiving duration was longer in the high than the low burden groups. Caregivers’ demographic, blood-relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patient’s neurological status exerts huge impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need of establishing optimal support system to HD family in Korea. A future longitudinal analysis could help us understand how disease progression aggravate the caregiver burden throughout the entire disease course.

Brief communication

A survey on the patients’ perspective on the telemedicine for patients with Parkinson’s disease: Jae Young Joo, Ji Young Yun, Young Eun Kim, Yu Jin Jung, Ryul Kim, Hui-Jun Yang, Woong-Woo Lee, Aryun Kim, Han Joon Kim; Received July 12, 2023 Accepted August 21, 2023 Published online August 22, 2023; DOI: https://doi.org/10.14802/jmd.23130 [Accepted]

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Abstract PDF: Objective
PD patients often find it difficult to visit hospitals because of the motor symptoms, distance to the hospital, or absence of caregivers. Telemedicine is one way to solve this problem.
Methods
We surveyed 554 PD patients from eight university hospitals in Korea. The questionnaire consisted of clinical characteristics of participants, possible teleconferencing methods, and preference of telemedicine.
Results
A total of 385 patients (70%) had interest to receive telemedicine. Among them, 174 preferred telemedicine whereas 211 preferred in-person visit. The longer the duration of disease, and the longer the time required to visit the hospital, the more the patients have interest to receive telemedicine.
Conclusion
This is the first study on PD patients' preference for telemedicine in Korea. Although the majority of patients with PD have a positive perspective on telemedicine, their interest to receive telemedicine depends on their different circumstance.

Original Article

Spatiotemporal Gait Parameters in Adults With Premanifest and Manifest Huntington’s Disease: A Systematic Review: Sasha Browning, Stephanie Holland, Ian Wellwood, Belinda Bilney; J Mov Disord. 2023;16(3):307-320. Published online August 10, 2023; DOI: https://doi.org/10.14802/jmd.23111

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Abstract PDF Supplementary Material: Objective
To systematically review and critically evaluate literature on spatiotemporal gait deviations in individuals with premanifest and manifest Huntington’s Disease (HD) in comparison with healthy cohorts.
Methods
We conducted a systematic review, guided by the Joanna Briggs Institute’s Manual for Evidence Synthesis and pre-registered with the International Prospective Register of Systematic Reviews. Eight electronic databases were searched. Studies comparing spatiotemporal footstep parameters in adults with premanifest and manifest HD to healthy controls were screened, included and critically appraised by independent reviewers. Data on spatiotemporal gait changes and variability were extracted and synthesised. Meta-analysis was performed on gait speed, cadence, stride length and stride length variability measures.
Results
We screened 2,721 studies, identified 1,245 studies and included 25 studies (total 1,088 participants). Sample sizes ranged from 14 to 96. Overall, the quality of the studies was assessed as good, but reporting of confounding factors was often unclear. Meta-analysis found spatiotemporal gait deviations in participants with HD compared to healthy controls, commencing in the premanifest stage. Individuals with premanifest HD walk significantly slower (-0.17 m/s; 95% confidence interval [CI] [-0.22, -0.13]), with reduced cadence (-6.63 steps/min; 95% CI [-10.62, -2.65]) and stride length (-0.09 m; 95% CI [-0.13, -0.05]). Stride length variability was also increased in premanifest cohorts by 2.18% (95% CI [0.69, 3.68]), with these changes exacerbated in participants with manifest disease.
Conclusion
Findings suggest individuals with premanifest and manifest HD display significant spatiotemporal footstep deviations. Clinicians could monitor individuals in the premanifest stage of disease for gait changes to identify the onset of Huntington’s symptoms.

Letters to the editor

“Face of the giant panda” sign and bilateral thalamic hyperintensity in isoniazid-included ataxia: Vikram V Holla, Manjunath Netravathi, Nitish Kamble, Jitender Saini, Pramod Kumar Pal; Received June 4, 2023 Accepted August 2, 2023 Published online August 2, 2023; DOI: https://doi.org/10.14802/jmd.23112 [Accepted]

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Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum: Sandeep Gurram, Vikram V Holla, Riyanka Kumari, Debjyoti Dhar, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):343-346. Published online July 25, 2023; DOI: https://doi.org/10.14802/jmd.23098

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A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity: Taewoo Kim, Su Hyeon Ha, Dallah Yoo, Kyung Sun Park, Tae-Beom Ahn; J Mov Disord. 2023;16(3):339-342. Published online July 24, 2023; DOI: https://doi.org/10.14802/jmd.23085

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Pisa Syndrome in Subacute Sclerosing Panencephalitis: A Case Report and Review of the Literature: Sandeep Kaur, Amit Shankar Singh, Sudesh Prabhakar, Jeenendra Prakash Singhvi, Harpreet Singh Mann, Arun Kaul; J Mov Disord. 2023;16(3):336-338. Published online July 10, 2023; DOI: https://doi.org/10.14802/jmd.23052

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Original Article

Cervical proprioception in Parkinson's disease and its correlation with manual dexterity function: Özlem Menevşe, Büşra Kepenek-Varol, Murat Gültekin, Sevil Bilgin; J Mov Disord. 2023;16(3):295-306. Published online July 3, 2023; DOI: https://doi.org/10.14802/jmd.23039

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Abstract PDF: Objective
Cervical proprioception plays a crucial role in posture and movement control. This study aimed to determine the relationships of cervical proprioception, cervical muscle strength and endurance with manual dexterity and hand strength in individuals with idiopathic Parkinson’s disease (PD).
Methods
Twenty individuals with PD (mean age: 63.9 years) and 20 healthy individuals as a control group (mean age: 61.9 years) were recruited. Cervical joint position error (JPE), static endurance of neck muscles, activation of deep cervical flexor muscles (Craniocervical Flexion Test, CCFT), manual dexterity (Purdue Pegboard Test, PPT), cognitive and motor tasks of the PPT, finger tapping test (FTT), pinch strength, and grip strength were assessed.
Results
Cervical JPE was significantly higher in individuals with PD than in controls (p < 0.05). The strength and endurance of the cervical muscles were significantly decreased in individuals with PD (p < 0.05). Cervical JPE measurements were negatively correlated with PPT, cognitive and motor tasks of the PPT in individuals with PD (all p < 0.05). The endurance of cervical flexor muscles was negatively correlated with PPT and cognitive PPT scores in the PD group (p < 0.05). In addition, a significant positive correlation was found between cervical flexor endurance and hand strength in the PD group (p < 0.05).
Conclusion
Cervical proprioception and the strength and endurance of cervical muscles decrease in individuals with PD compared to healthy individuals. Impairment of cervical proprioception appears to be associated with poorer upper extremity performance. Detailed evaluation of the cervical region in PD may help determine the factors affecting upper extremity function.

Viewpoint

From Evidence to the Dish: A Viewpoint of Implementing a Thai-Style Mediterranean Diet for Parkinson’s Disease: Onanong Phokaewvarangkul, Nitinan Kantachadvanich, Vijittra Buranasrikul, Appasone Phoumindr, Saisamorn Phumphid, Priya Jagota, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):279-284. Published online June 19, 2023; DOI: https://doi.org/10.14802/jmd.23021

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