Objective Huntington’s disease (HD) is characterized by motor, cognitive, and neuropsychiatric symptoms. Oculomotor impairments and gait variability have been independently considered as potential markers in HD. However, an integrated analysis of eye movement and gait is lacking. We performed multiple examinations of eye movement and gait variability in HTT mutation carriers, analyzed the consistency between these parameters and clinical severity, and then examined the associations between oculomotor impairments and gait deficits.
Methods We included 7 patients with pre-HD, 30 patients with HD and 30 age-matched controls. We collected demographic data and assessed the Unified Huntington’s Disease Rating Scale (UHDRS) score. Examinations, including saccades, smooth pursuit tests, and optokinetic (OPK) tests, were performed to evaluate eye movement function. The parameters of gait include stride length, walking velocity, step deviation, step length, and gait phase.
Results HD patients have significant impairments in the latency and velocity of saccades, the gain of smooth pursuit, and the gain and slow phase velocities of OPK tests. Only the speed of saccades significantly differed between pre-HD patients and controls. There are significant impairments in stride length, walking velocity, step length, and gait phase in HD patients. The parameters of eye movement and gait variability in HD patients were consistent with the UHDRS scores. There were significant correlations between eye movement and gait parameters.
Conclusion Our results show that eye movement and gait are impaired in HD patients and that the speed of saccades is impaired early in pre-HD. Eye movement and gait abnormalities in HD patients are significantly correlated with clinical disease severity.
Objective Embouchure dystonia (ED) is a task-specific movement disorder that leads to loss of fine motor control of the embouchure and tongue muscles in wind musicians. In contrast to musicians’ hand dystonia, no validated severity rating for ED exists, posing a major obstacle for structured assessment in scientific and clinical settings. The aim of this study is to validate an ED severity rating scale (EDSRS) allowing for a standardized estimation of symptom severity in ED.
Methods The EDSRS was set up as a composite score of six items evaluating audio-visual disease symptoms during the performance of three standardized musical tasks (sustained notes, scales, and fourths) separately for each body side. For validation, 17 musicians with ED underwent standardized audiovisual recordings during performance. Anonymized and randomized recordings were assessed by two experts in ED (raters). Statistical analysis included metrics of consistency, reliability, and construct validity with the fluctuation of the fundamental frequency of the acoustic signal (F0) (extracted in an audio analysis of the sustained notes).
Results The EDSRS showed high internal consistency (Cronbach’s α = 0.975−0.983, corrected item-total correlations r = 0.90−0.96), interrater reliability (intraclass correlation coefficient [ICC] for agreement/consistency = 0.94/0.96), intrarater reliability over time (ICC per rater = 0.93/0.87) and good precision (standard error of measurement = 2.19/2.65), and correlated significantly with F0 variability (r = 0.55–0.60, p = 0.011–0.023).
Conclusion The developed EDSRS is a valid and reliable tool for the assessment of ED severity in the hands of trained expert raters. Its easy applicability makes it suitable not only for routine clinical practice but also for scientific studies.
Objective
Rapid eye movement sleep behavior disorder (RBD) is associated with α-synucleinopathies, such as Parkinson’s disease (PD). We aimed to assess the differences in the clinical characteristics of PD with and without RBD.
Methods
Forty-two patients previously diagnosed with PD were evaluated for clinical history, motor and cognitive functioning using the Unified Parkinson’s Disease Rating Scale (UPDRS) and Mini-Mental State Examination (MMSE), autonomic symptoms, sleep characteristics using the Pittsburg Sleep Quality Index (PSQI), and the presence of RBD using the Korean version of the RBD screening questionnaire (RBDSQ). The prevalence of RBD and the patients’ demographic features were evaluated. The patients were classified into two groups, PD with RBD and PD without RBD, based on the RBDSQ scores. The motor and cognitive functions, as well as other clinical features of the two groups were compared.
Results
A total of 42 PD patients were enrolled. Eighteen patients were classified as PD with RBD. Compared to PD without RBD, PD with RBD showed higher scores of rigidity in the UPDRS subscale. Regarding sleep problems, PD with RBD revealed higher sleep disturbance, lower sleep efficiency, and lower overall sleep quality in the PSQI. There was no difference in cognitive dysfunction between the two groups according to the Korean version of the MMSE.
Conclusions
PD with RBD was associated with poorer sleep and motor symptoms. Therefore, RBD symptoms in PD are possibly poor prognostic markers.
Citations
Citations to this article as recorded by
Cerebellar Microstructural Abnormalities in Parkinson’s Disease: a Systematic Review of Diffusion Tensor Imaging Studies Maryam Haghshomar, Parnian Shobeiri, Seyed Arsalan Seyedi, Fatemeh Abbasi-Feijani, Amirhossein Poopak, Houman Sotoudeh, Arash Kamali, Mohammad Hadi Aarabi The Cerebellum.2022; 21(4): 545. CrossRef
A data-driven system to identify REM sleep behavior disorder and to predict its progression from the prodromal stage in Parkinson's disease Matteo Cesari, Julie A.E. Christensen, Maria-Lucia Muntean, Brit Mollenhauer, Friederike Sixel-Döring, Helge B.D. Sorensen, Claudia Trenkwalder, Poul Jennum Sleep Medicine.2021; 77: 238. CrossRef
Impact of Obstructive Sleep Apnea on Cognitive and Motor Functions in Parkinson's Disease Mohamed Elfil, Eshak I. Bahbah, Mahmoud M. Attia, Mohamed Eldokmak, Brian B. Koo Movement Disorders.2021; 36(3): 570. CrossRef
Sleep Disorders and Cognitive Dysfunctions in Parkinson’s Disease: A Meta-Analytic Study Gianpaolo Maggi, Luigi Trojano, Paolo Barone, Gabriella Santangelo Neuropsychology Review.2021; 31(4): 643. CrossRef
Risk stratification for REM sleep behavior disorder in patients with Parkinson’s disease: A PRISMA-compliant meta-analysis and systematic review Chengjuan Xie, Mingyu Zhu, Ying Hu Clinical Neurology and Neurosurgery.2021; 202: 106484. CrossRef
REM sleep behavior disorder portends poor prognosis in Parkinson’s disease: A systematic review Yoon Kim, Young Eun Kim, Eun Ok Park, Chae Won Shin, Han-Joon Kim, Beomseok Jeon Journal of Clinical Neuroscience.2018; 47: 6. CrossRef
Prevalence of rapid eye movement sleep behavior disorder (RBD) in Parkinson’s disease: a meta and meta-regression analysis Xiaona Zhang, Xiaoxuan Sun, Junhong Wang, Liou Tang, Anmu Xie Neurological Sciences.2017; 38(1): 163. CrossRef
Clinical variations in Parkinson’s disease patients with or without REM sleep behaviour disorder: a meta-analysis Ruo-lin Zhu, Cheng-juan Xie, Pan-pan Hu, Kai Wang Scientific Reports.2017;[Epub] CrossRef
Objective aaThe aim of this study was to investigate frontal N30 status in Parkinson’s disease (PD) and to examine the correlation between the amplitude of frontal N30 and the severity of motor deficits.
Methods aaThe frontal N30 was compared between 17 PD patients and 18 healthy volunteers. Correlations between the amplitude of frontal N30 and the Unified Parkinson’s Disease Rating Scale (UPDRS) motor score of the more severely affected side was examined.
Results aaThe mean latency of the N30 was not significantly different between patients and healthy volunteers (p = 0.981), but the mean amplitude was lower in PD patients (p < 0.025). There was a significant negative correlation between the amplitude of N30 and the UPDRS motor score (r = -0.715, p = 0.013).
Conclusions The frontal N30 status indicates the motor severity of PD. It can be a useful biomarker reflecting dopaminergic deficits and an objective measurement for monitoring the clinical severity of PD.
Citations
Citations to this article as recorded by
A Comparison of Sensorimotor Integration and Motor Fitness Components between Collegiate Athletes with and without Long COVID: A Cross-Sectional Study with Pair-Matched Controls Ibrahim M. Moustafa, Amal Ahbouch, Raheesa P. Kader, Tamer Mohamed Shousha, Abdulla Alrahoomi Journal of Clinical Medicine.2024; 13(9): 2469. CrossRef
The Effects of Chiropractic Spinal Adjustment on EEG in Adults with Alzheimer's and Parkinson's Disease: A Pilot Randomised Cross-over Trial Muhammad Samran Navid, Imran Khan Niazi, Kelly Holt, Rasmus Bach Nedergaard, Imran Amjad, Usman Ghani, Nitika Kumari, Muhammad Shafique, Jenna Duehr, Robert J. Trager, Heidi Haavik Journal of Integrative Neuroscience.2024;[Epub] CrossRef
Spatial discrimination in patients with MSA, PSP, DIP, and VP with pain Min Seung Kim, Jaeho Kim, Suk Yun Kang Scientific Reports.2024;[Epub] CrossRef
Clinical factors affecting evoked magnetic fields in patients with Parkinson's disease Ryoji Naganuma, Ichiro Yabe, Megumi Takeuchi, Kirari Morishita, Shingo Nakane, Ryoken Takase, Ikuko Takahashi-Iwata, Masaaki Matsushima, Mika Otsuki, Hideaki Shiraishi, Hidenao Sasaki, Wing-ho Yung PLOS ONE.2020; 15(9): e0232808. CrossRef
Short-Term Effects of Thoracic Spine Manipulation on the Biomechanical Organisation of Gait Initiation: A Randomized Pilot Study Sébastien Ditcharles, Eric Yiou, Arnaud Delafontaine, Alain Hamaoui Frontiers in Human Neuroscience.2017;[Epub] CrossRef