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Objective: This study aimed to describe the usefulness of our teleconsultation system for managing multiple sclerosis (MS) in regions without specialists. Methods: A cross‐sectional questionnaire survey involving 11 MS patients and their primary neurologists was carried out between May and December 2023. Real‐time video conferences were conducted between an MS specialist at a hub hospital and patients with their primary neurologists at one of the four regional core hospitals in Hokkaido, Japan. Patients and their primary neurologists completed questionnaires to evaluate the usefulness of the teleconsultation system. Results: The patients and their primary neurologists were generally satisfied with the teleconsultations and expressed willingness to continue using the system. In particular, alleviating the burden of visiting distant MS‐specialized clinics was highly appreciated by patients. In addition, patients gave high scores for questions regarding increased satisfaction with the primary neurologists' care and the treatments they offered. The primary neurologists thought the system enhanced their knowledge of MS management. However, they did not think that the system could ease their burden for managing MS patients because of challenges in time allocation and scheduling for teleconsultation sessions. Conclusions: The present study suggested that our expert teleconsultation system for MS reduces the burden on patients of visiting distant MS‐specialized clinics, and enhances knowledge of MS management for the primary neurologists. It also promotes trust between patients and their primary neurologists, and taken together, these aspects could collectively lead to independent and sustainable MS management in regions without MS specialists. [ABSTRACT FROM AUTHOR]

Background: Chronic constipation is a common digestive complication of Parkinson's disease (PD). Objectives: To verify the usefulness of elobixibat, an ileal bile acid transporter inhibitor, for chronic constipation in PD. Methods: This double‐blind, placebo‐controlled study consisted of a 2‐week observation/washout period and a 4‐week treatment period. All patients received a Bowel Movement Diary at Week ‐2 and were allocated to elobixibat (10 mg) or placebo at Week 0. Patients visited at Weeks 2 and 4 to report daily spontaneous bowel movements (SBM), stool form, drug use, quality of life (QOL), and safety. Changes in these parameters were assessed. Results: The study included 38 patients in the elobixibat group and 39 in the placebo group, and 37 each completed the study. SBM frequency/week (mean ± standard deviation) increased significantly from 4.2 ± 2.6 at baseline to 5.9 ± 3.2 at Week 4 in the elobixibat group (P = 0.0079), but not in the placebo group (4.5 ± 2.7 to 5.3 ± 3.5; P = 0.0889). On analysis of covariance, the between‐group difference in frequency changes at Week 4 (primary endpoint) was not significant after adjustment by baseline and sex (point estimate = 0.8; 95% confidence interval = −0.57 to 2.09, P = 0.2601), although a significant difference (P = 0.0011) was evidenced at Week 1 by a similar analysis. Stool form and scores of satisfaction and stigma were improved by elobixibat. Adverse events were as previously reported. Conclusions: Elobixibat improved the SBM frequency, though the defined primary endpoint was not evidenced. QOL parameters (stool consistency and treatment satisfaction) were also improved. Elobixibat may have therapeutic benefits in PD patients suffering from chronic constipation. Trial Registration Information: Trial Registration Number: JPRN‐jRCTs031200172 (submitted: October 26, 2020; first patient enrolment: December 23, 2020; https://jrct.niph.go.jp/en-latest-detail/jRCTs031200172). [ABSTRACT FROM AUTHOR]

This article discusses the use of remote monitoring technologies in neurodegenerative movement disorders such as Parkinson's disease and Huntington's disease. These disorders can significantly impact a patient's quality of life due to the progressive impairment of motor control. Remote monitoring technologies, such as wearable sensors and non-contact sensors, allow for continuous and accurate monitoring of symptoms in the context of daily life. Advances in artificial intelligence and data analytics can extract useful insights from this data to support personalized treatment plans. However, there are still unresolved issues related to data privacy, cost, and customization that need to be addressed. Overall, remote monitoring technologies have the potential to improve the quality of life for patients with movement disorders and enable more effective symptom management. [Extracted from the article]

Background: Parkin RBR E3 ubiquitin‐protein ligase (PRKN) mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E, which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are potentially unrevealed complex pathogenic PRKN structural variants. Objectives: To identify complex structural variants in PRKN using long‐read sequencing. Methods: We investigated the genetic cause of monozygotic twins presenting with a young onset dystonia‐parkinsonism using targeted sequencing, whole exome sequencing, multiple ligation probe amplification, and long‐read sequencing. We assessed the presence and frequency of complex inversions overlapping PRKN using whole‐genome sequencing data of Accelerating Medicines Partnership Parkinson's disease (AMP‐PD) and United Kingdom (UK)‐Biobank datasets. Results: Multiple ligation probe amplification identified a heterozygous exon three deletion in PRKN and long‐read sequencing identified a large novel inversion spanning over 7 Mb, including a large part of the coding DNA sequence of PRKN. We could diagnose the affected subjects as compound heterozygous carriers of PRKN. We analyzed whole genome sequencing data of 43,538 participants of the UK‐Biobank and 4941 participants of the AMP‐PD datasets. Nine inversions in the UK‐Biobank and two in AMP PD were identified and were considered potentially damaging and likely to affect PRKN expression. Conclusions: This is the first report describing a large 7 Mb inversion involving breakpoints outside of PRKN. This study highlights the importance of using long‐read sequencing for structural variant analysis in unresolved young‐onset PD cases. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA. [ABSTRACT FROM AUTHOR]

Introduction: The mechanism of Pisa syndrome in Parkinson's disease (PD) is unclear. We aimed to analyze the spatial perception of patients with PD with Pisa syndrome using virtual reality.Methods: In total, 16 patients with Pisa syndrome, 16 age-matched patients without Pisa syndrome, and 16 age-matched controls were included. They viewed the virtual room gradually tilting to different 8 directions randomized across trials. The 75% discrimination threshold angle and the mean tilting discrimination angle for each direction were evaluated. Participants' lateral trunk deviation was measured using Kinect. Neuropsychological status was evaluated, using the Mini-Mental Status Examination (MMSE), the Japanese version of the Montreal-Cognitive Assessment, Frontal Assessment Battery, and the color-word interference task of the Stroop test. Visuospatial abilities were assessed using Benton Judgement of Line Orientation, and vestibular function was evaluated using Subjective Visual Vertical (SVV).Results: The 75% discrimination threshold in the tilting discrimination angle was larger in all directions for those in the Pisa syndrome group compared to patients in the without Pisa syndrome group and those in the control group. There were significant differences between the three groups for Front-Right, Right, and Back. Patients with Pisa syndrome showed a significantly worse performance in these tests compared with controls and tended to have worse SVV performance compared with patients without Pisa syndrome.Conclusion: The present findings support the hypothesis of visuo-spatial disability and/or attentional impairment in patients with Pisa syndrome. [ABSTRACT FROM AUTHOR]

Objective: To evaluate and compare the effect of "super" high-frequency (SHF; >130 Hz) stimulation and conventional high-frequency (CHF; 100–130 Hz) stimulation on patients with dyskinesia. Methods: The patients were evaluated using the Abnormal Involuntary Movement Scale (AIMS) with SHF and CHF after levodopa infusion. The secondary outcomes included the Burke–Fahn–Marsden dystonia rating scale and the Unified Parkinson's Disease Rating Scale part III scores. Result: Six patients were enrolled in this study. The AIMS scores were not significantly different between SHF and CHF (p=0.89, paired t-test). Three out of six patients (50%) had better AIMS scores when SHF was applied, the scores of two patients remained unchanged, and one patient had a score worse than that with CHF. No short-term adverse effects were observed. Conclusion: The results of our pilot study show that SHF is safe and tolerable. We believe that in appropriate cases SHF can be used for managing dyskinesia after conventional methods yield unfavorable results. [ABSTRACT FROM AUTHOR]

Background. The effects of subthalamic nuclear deep brain stimulation therapy (STN-DBS) and combined postoperative rehabilitation for patients with Parkinson's disease with postural instability have yet to be well reported. This study investigated the effects of short-term postoperative rehabilitation with STN-DBS on physical function in patients with Parkinson's disease. Methods. Patients diagnosed with Parkinson's disease who were admitted to our hospital for STN-DBS surgery were included in this study. Data were prospectively collected and retrospectively analyzed. Postoperative rehabilitation consisted of muscle-strengthening exercises, stretching, and balance exercises for 40–60 minutes per day for approximately 14 days. The Mini-Balance Evaluation Systems Test (Mini-BESTest), Timed Up and Go test (TUG) seconds and steps, Trunk Impairment Scale (TIS), seconds for 10 times toe-tapping, lower limb extension torque using StrengthErgo240, and center of pressure sway in the quiet standing posture were evaluated preoperatively, postoperatively, and at discharge. Mini-BESTest changes were also evaluated in the two groups classified by the presence or absence of postural instability. One-way and two-way repeated measures analyses of variance were performed for each of the three periods of change, and paired t-tests with the Bonferroni method were performed as multiple comparison tests. A stepwise multiple regression model was used to identify factors associated with balance improvement. Results. A total of 60 patients with Parkinson's disease were included, and there were significant increases in Mini-BESTest, TIS, StrengthErgo240, and postural sway during closed-eye standing compared to pre- and postoperative conditions at discharge (p < 0.05), and they decreased significantly compared to the postoperative period (p < 0.05). On stepwise multiple regression analysis, decreased steps of TUG and improvement of TIS scores were related to improvement of the Mini-BESTest (p < 0.05). In addition, Mini-BESTest scores in both groups with and without postural instability were significantly increased at discharge compared to preoperative and postoperative conditions (p < 0.01). Conclusion. Postoperative rehabilitation combined with STN-DBS may provide short-term improvements in physical function compared with the preoperative medicated status. The improvements in gait step length and trunk function may be important factors for obtaining improvement of postoperative postural stability. [ABSTRACT FROM AUTHOR]

Highly boron-doped diamond (BDD) was deposited on chemically etched micrometer-sized tungsten wires using microwave plasma assisted chemical vapor deposition (MPCVD), and these were used to fabricate BDD microelectrodes. BDD microelectrodes with very small diameter (about 5 [micro]m) and 250 [micro]m in length could be made successfully. In addition to the unique properties of BDD electrodes, such as a very low background current, high stability, and selective oxidation of dopamine (DA) in the presence of ascorbic acid (AA), other superior properties of the microelectrodes, including a constant current response, an increase in the mass transport, and the ability, for use in high resistance media were also shown. An application study was conducted for in vivo detection of DA in mouse brain, where the BDD microelectrode was inserted into the corpus striatum of the mouse brain. A clear signal current response following medial forebrain bundle (MFB) stimulation could be obtained with high sensitivity. Excellent stability was achieved, indicating that the BDD microelectrodes are very promising for future in vivo electroanalysis.

Introduction: Approaches for objectively measuring facial expressions and speech may enhance clinical and research evaluation in telemedicine, which is widely employed for Parkinson's disease (PD). This study aimed to assess the feasibility and efficacy of using an artificial intelligence-based chatbot to improve smile and speech in PD. Further, we explored the potential predictive value of objective face and speech parameters for motor symptoms, cognition, and mood.Methods: In this open-label randomized study, we collected a series of face and conversational speech samples from 20 participants with PD in weekly teleconsultation sessions for 5 months. We investigated the effect of daily chatbot conversations on smile and speech features, then we investigated whether smile and speech features could predict motor, cognitive, and mood status.Results: A repeated-measures analysis of variance revealed that the chatbot conversations had a significant interaction effect on the mean and standard deviation of the smile index during smile sections (both P = .02), maximum duration of the initial rise of the smile index (P = .04), and frequency of filler words (P = .04), but no significant interaction effects were observed for clinical measurements including motor, cognition, depression, and quality of life. Explorative analysis using statistical and machine-learning models revealed that the smile indices and several speech features were associated with motor symptoms, cognition, and mood in PD.Conclusion: An artificial intelligence-based chatbot may positively affect smile and speech in PD. Smile and speech features may capture the motor, cognitive, and mental status of patients with PD. [ABSTRACT FROM AUTHOR]

Background: Impulse control behaviors (ICBs) in Parkinson's disease (PD) are thought to be caused by an overdose of dopaminergic therapy in the relatively spared ventral striatum, or by hypersensitivity of this region to dopamine. Alterations in brain networks are now also thought to contribute to the development of ICBs. Objective: To comprehensively assess white matter microstructures in PD patients with ICBs using advanced diffusion MRI and magnetization transfer saturation (MT‐sat) imaging. Methods: This study included 19 PD patients with ICBs (PD‐ICBs), 18 PD patients without ICBs (PD‐nICBs), and 20 healthy controls (HCs). Indices of diffusion tensor imaging (DTI), diffusion kurtosis imaging, neurite orientation dispersion and density imaging, and MT‐sat imaging were evaluated using tract‐based spatial statistics (TBSS), regions of interest (ROIs), and tract‐specific analysis (TSA). Results: Compared with HCs, PD‐nICBs had significant alterations in many major white matter tracts in most parameters. In contrast, PD‐ICBs had only partial changes in several parameters. Compared with PD‐ICBs, TBSS, ROI, and TSA analyses revealed that PD‐nICBs had lower axial kurtosis, myelin volume fraction, and orientation dispersion index in the uncinate fasciculus and external capsule, as well as in the retrolenticular part of the internal capsule. These are components of the reward system and the visual and emotional perception areas, respectively. Interpretation: Myelin and axonal changes in fibers related to the reward system and visual emotional recognition might be more prominent in PD‐nICBs than in PD‐ICBs. [ABSTRACT FROM AUTHOR]

Backgrounds: Although the short‐term efficacy of bilateral subthalamic deep brain stimulation (DBS) has been reported in a limited number of Parkinson's disease (PD) patients with SNCA mutations, there are no data for long‐term outcome. Methods: This multicenter retrospective study investigated previously reported PD patients with SNCA mutations, implanted with bilateral subthalamic DBS. We compared demographic and clinical data at baseline and last follow‐up. Clinical data of motor and nonmotor symptoms and motor fluctuation were collected up to 10 years from DBS surgery. Results: Among four subjects, three had SNCA duplication and one had c.158C.A (p.A53E) mutation. The mean post‐implantation follow‐up duration was 5.4 ± 3.7 years. All patients with SNCA duplication showed favorable outcome, although one died from breast cancer 1.5 years after DBS. The patient with the missense mutation became wheelchair‐bound due to progressed axial, cognitive and psychiatric symptoms after 3.5 years from DBS despite the benefit on motor fluctuation. Conclusion: Based on findings in our small cohort, subthalamic DBS could be beneficial for motor fluctuation in PD patients with SNCA mutations, especially those with SNCA duplication, and cognitive and psychiatric symptoms are important for the long‐term outcome of subthalamic DBS. This study assesses the long‐term outcome of bilateral subthalamic deep brain stimulation (DBS) in patients with Parkinson's disease (PD) related with SNCA mutations.Based on our results, we suggest bilateral subthalamic DBS could be effective treatment option in PD with SNCA mutations if the candidates are well‐selected.Cognitive, psychiatric symptoms and axial motor symptoms are important for the long‐term outcome of subthalamic DBS in PD with SNCA mutation. [ABSTRACT FROM AUTHOR]

Advanced Parkinson's disease is inconsistently defined, and evidence is lacking in relation to device-aided therapies. To update existing reviews of intrajejunal infusion of levodopa/carbidopa (LCIG), we performed a literature search for relevant articles (to November 3, 2020) using PubMed supplemented by hand searching. Retrieved articles were categorized by relevance to identified research questions, including motor complications and symptoms; nonmotor symptoms; functioning, quality of life, and caregiver burden; optimal timing of treatment initiation and administration duration; discontinuation; and complications. Most eligible studies (n = 56) were open-label, observational studies including relatively small patient numbers. LCIG consistently reduces OFF time and increased ON time without troublesome dyskinesia with varying effects regarding ON time with troublesome dyskinesia and the possibility of diphasic dyskinesia. More recent evidence provides some increased support for the benefits of LCIG in relation to nonmotor symptoms, quality of life, activities of daily living, and reduced caregiver burden. Patient age does not appear to significantly impact the effectiveness of LCIG. Discontinuation rates with LCIG (~17%-26%) commonly relate to device-related issues, although the ability to easily discontinue LCIG may represent a potential benefit. LCIG may be a favorable option for patients with advanced Parkinson's disease who show predominant nonmotor symptoms and vulnerability to complications of other advanced therapy modalities. Larger, well-controlled studies, including precise investigation of cost effectiveness, would further assist treatment selection. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]