Clinical Parkinsonism Related Disorders最新文献

{"title":"Longitudinal Analysis of the Deep Brain Stimulation Impairment Scale for Subthalamic Nucleus Stimulation in Parkinson’s Disease","authors":"Paula Broetzmann ,&nbsp;Carolin Semmler ,&nbsp;Hannah Jergas ,&nbsp;Gregor A. Brandt ,&nbsp;Christina van der Linden ,&nbsp;Charlotte Schedlich-Teufer ,&nbsp;Franziska Maier ,&nbsp;Elke Kalbe ,&nbsp;Veerle Visser-Vandewalle ,&nbsp;Michael T. Barbe ,&nbsp;Juan Carlos Baldermann","doi":"10.1016/j.prdoa.2025.100354","DOIUrl":"10.1016/j.prdoa.2025.100354","url":null,"abstract":"<div><h3>Background</h3><div>Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an established treatment for people with Parkinson’s disease (PwP). However, some patients treated with DBS may still experience quality of life limiting impairments after surgery, e.g., concerning posture and gait, cognition, speech, apathy or impulsivity, as well as technical challenges in managing the implanted device. The Deep Brain Stimulation Impairment Scale (DBS-IS) was developed to assess these impairments, yet their postoperative development is underexplored.</div></div><div><h3>Methods</h3><div>We retrospectively analysed changes in the DBS-IS Total Score and subscales assessed in patients at baseline, three, six and twelve months post-DBS implantation (n = 33 PwP) using linear mixed models for repeated measurements. Furthermore, we investigated device-related issues within the first year after surgery and their impact on quality of life in a larger sample (n = 99 PwP) using DBS-IS Facility Scores.</div></div><div><h3>Results</h3><div>After surgery we observed significant improvement in the DBS-IS Total Score (β = −1.93; p = 0.005), particularly in the subscales of postural instability, gait difficulty and cognitive impairment. 43 % of patients reported device-related problems within one year after surgery. Patients with device-related problems showed significantly less improvement in quality of life (z = −2.40; p = 0.017). Exploratory post-hoc tests suggested a higher propensity for device-related complications among older individuals (z = −2.19; p = 0.029).</div></div><div><h3>Conclusion</h3><div>The majority of impairments evaluated by the DBS-IS, such as postural instability, gait difficulty and cognitive impairments, appear amenable to STN-DBS intervention. Special attention is warranted for potential device issues, especially in older patients, to optimize patients’ quality of life outcomes.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100354"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144280983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gait and balance dysfunction are associated with cognitive performance only in men with Parkinson’s disease","authors":"Amy W. Amara ,&nbsp;Kimberly H. Wood ,&nbsp;Aya M. Miften ,&nbsp;Lina Kleinschmidt ,&nbsp;Corey S. White ,&nbsp;Allen Joop ,&nbsp;Raima A. Memon ,&nbsp;Jennifer Pilkington ,&nbsp;Jutaluk Kongsuk ,&nbsp;Corina Catiul ,&nbsp;Adeel A. Memon ,&nbsp;Marcas M. Bamman ,&nbsp;Christopher P. Hurt","doi":"10.1016/j.prdoa.2025.100363","DOIUrl":"10.1016/j.prdoa.2025.100363","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson’s disease (PD) can cause locomotor dysfunction and cognitive impairment and these symptoms are often associated. This study assesses relationships between comprehensive cognitive performance and locomotor function domains: gait, balance, and mobility, in men and women with PD.</div></div><div><h3>Methods</h3><div>Sixty PD participants, Hoehn and Yahr 1–3, age ≥ 45, and Montreal Cognitive Assessment score ≥ 18, underwent locomotor function assessments and a comprehensive neurocognitive battery. Primary outcomes included Timed Up and Go (TUG), maximum walking speed (MWS), Mini Balance Evaluation Systems Test (Mini-BESTest), and cognitive composite score (CCS). Spearman correlations determined associations between cognition and locomotor function for the total sample and separately for men and women.</div></div><div><h3>Results</h3><div>CCS correlated with all primary locomotor outcomes for the overall group and men only. Specifically, positive relationships were observed between the CCS and Mini-BEST Test (balance) for the overall group (p = 0.009) and men (p = 0.001), as well as MWS (gait) for the overall group (p = 0.006) and men (p &lt; 0.001). CCS and TUG (mobility) were negatively correlated for the overall group (p = 0.005) and men (p &lt; 0.001). There were no significant correlations between CCS and locomotor outcomes in women. Exploratory analyses suggest that performance in executive function, visuospatial skills, and processing speed drive these relationships.</div></div><div><h3>Conclusion</h3><div>In PD, balance, gait, and mobility correlated with global cognition. Correlations between motor function and cognitive performance were evident only in men. This study enhances understanding of the complex interplay between cognition and motor function in PD, especially among men.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100363"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital speech assessments and machine learning for differentiation of neurodegenerative diseases","authors":"Kyurim Kang ,&nbsp;Adonay S. Nunes ,&nbsp;Ilkay Yildiz Potter ,&nbsp;Ram Kinker Mishra ,&nbsp;Andrew Geronimo ,&nbsp;Jamie L. Adams ,&nbsp;Catherine Isroff ,&nbsp;Jesse E. Wang ,&nbsp;Ashkan Vaziri ,&nbsp;Anne-Marie Wills ,&nbsp;Alexander Pantelyat","doi":"10.1016/j.prdoa.2025.100389","DOIUrl":"10.1016/j.prdoa.2025.100389","url":null,"abstract":"<div><h3>Introduction</h3><div>Speech impairment is a prevalent symptom of neurological disorders, including Parkinson’s disease (PD), Progressive Supranuclear Palsy (PSP), Huntington’s disease (HD), and Amyotrophic Lateral Sclerosis (ALS), with mechanisms and severity varying across and within conditions. Scalable digital health tools and machine learning (ML) are essential for diagnosing and tracking neurodegenerative disease.</div></div><div><h3>Methods</h3><div>A total of 92 individuals were included in this study (21 PSP, 21 PD, 18 HD, 15 ALS, and 16 healthy elderly controls (CTR)). The Rainbow Passage was collected on a digital device and analyzed to extract 12 speech features representing speech production. A set of Elastic Net ML models was trained on these speech features to differentiate between diagnostic classes. A specialized Support Vector Machine ML model was then developed to differentiate PSP from PD.</div></div><div><h3>Results</h3><div>Elastic Net models achieved a balanced accuracy of 77% over 5 diagnostic classes (group-specific sensitivities of 76% for PSP, 67% for PD, 83% for HD, 73% for ALS, and 88% for CTR) and 83% over 4 diagnostic classes (group-specific sensitivities of 83% for PSP-PD, 83% for HD, 73% for ALS, and 94% for CTR). The PSP vs. PD classification model demonstrated a balanced accuracy of 85%, with sensitivity of 88% for PSP and 82% for PD. Key speech features differentiated clinical conditions, with <em>Total Voiced Time</em> being the strongest positive feature for combined PSP-PD. In HD, ALS, and CTR, <em>Ratio Extra Words, Pauses per Second</em>, and <em>Intelligibility</em> were the most strongly differentiating features, respectively. <em>Articulatory Rate</em> emerged as the most distinguishing feature between PD and PSP.</div></div><div><h3>Conclusion</h3><div>Our findings highlight the potential of digital health technology and ML in identifying and monitoring speech features in neurodegenerative diseases.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100389"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144917130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Usability, safety and tolerability of CUE1 vibrotactile device as promising therapeutic approach in orthostatic tremor","authors":"Viktoria Azoidou ,&nbsp;Alexandra Zirra ,&nbsp;Thomas Boyle ,&nbsp;David Gallagher ,&nbsp;Alastair John Noyce ,&nbsp;Cristina Simonet","doi":"10.1016/j.prdoa.2025.100379","DOIUrl":"10.1016/j.prdoa.2025.100379","url":null,"abstract":"<div><h3>Introduction</h3><div>Primary Orthostatic Tremor (POT) is a rare hyperkinetic movement disorder characterized by unsteadiness while standing, often exacerbated by anxiety and fatigue. It significantly impairs quality of life, and current treatment options are limited, with invasive procedures carrying notable risks.</div></div><div><h3>Methods</h3><div>This unblinded interventional study assessed the usability, safety, and tolerability of the CUE1, a non-invasive vibrotactile stimulation device worn on the sternum. Secondary exploratory outcomes included objective measures of balance and mobility: maximal stance time, tandem walk, heel raise hold, tandem stance, and Timed Up and Go (TUG) with and without dual tasking (DT). Assessments were performed at baseline, immediately after a 20-minute acclimatization session, and after 9 weeks of daily use (8 h/day). Patient-reported outcomes on fatigue, anxiety, and perceived change were also collected.</div></div><div><h3>Results</h3><div>Ten participants with POT (70 % female, aged 58–88 years) completed the study. Compliance and tolerability were excellent (100 %), with only mild, transient skin irritation reported in two cases. Immediate post-intervention improvements were observed in TUG [-1.22 s (95 % CI: −2.03, −0.26), p = 0.020], tandem stance [+1.41 s (0.00, 6.13), p = 0.025], tandem walk [+0.50 steps (0.00, 2.50), p = 0.042], and heel raise hold [+1.62 s (1.00, 3.32), p = 0.020]. After 9 weeks, improvements were observed in TUG [-2.13 s (−4.00, −0.26), p = 0.028], TUG-DT [-7.51 s (−14.88, −0.14), p = 0.047], tandem stance [+9.06 s (1.04, 17.08), p = 0.028], fatigue [-7.00 (−13.63, −0.37), p = 0.035], and patient-reported impression of change [+1.10 (0.14, 2.06), p = 0.027].</div></div><div><h3>Conclusion</h3><div>CUE1 vibrotactile stimulation is safe, well-tolerated, and shows promise in improving balance, mobility, and fatigue in POT. Larger, controlled trials are warranted.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100379"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144767020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of levodopa and deep brain stimulation on visual impairments in Parkinson’s disease","authors":"Sana Aslam ,&nbsp;Markey Olson ,&nbsp;Melissa Kovacs ,&nbsp;Pireh Ansari ,&nbsp;Amputch Karukote ,&nbsp;Justine Chan ,&nbsp;Shadi Barbu ,&nbsp;Sydney Felsen ,&nbsp;Holly A. Shill ,&nbsp;Charles H. Adler","doi":"10.1016/j.prdoa.2025.100390","DOIUrl":"10.1016/j.prdoa.2025.100390","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson’s disease (PD) often causes visual changes that impair visuospatial processing, reading speed, and contrast acuity, impacting patients’ quality of life.</div></div><div><h3>Objectives</h3><div>This study aimed to investigate the effects of levodopa and deep brain stimulation (DBS) on visual symptoms associated with PD.</div></div><div><h3>Methods</h3><div>Patients were assessed either before DBS surgery (both off and on medication) or at their first DBS programming session (off medication, with and without stimulation). The King-Devick reading speed and color contrast visual tests were administered in each condition, evaluating high and low contrast across black, red, and yellow.</div></div><div><h3>Results</h3><div>Reading speed and color contrast acuity did not change following levodopa dosing or when deep brain stimulation was off or on. However, those patients that had testing before and after DBS showed a non-significant trend towards improvement in their rapid reading test scores from pre-DBS to post-DBS and black color contrast sensitivity using the 2.5% contrast.</div></div><div><h3>Conclusions</h3><div>Although levodopa and DBS did not significantly improve reading speed or contrast acuity after single dosing or turning DBS on and off, in this small study, these findings provide valuable insights into the stability of these visual symptoms under current treatments. There was evidence that DBS surgery may improve certain aspects of reading speed and contrast acuity and further study is needed. This work underscores the need for innovative approaches to enhance visual function in PD.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100390"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145018748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of a treadmill and oculomotor dual-task intervention vs. -nordic walking on balance in Parkinson’s disease patients − a pilot study","authors":"Marc Niering ,&nbsp;Corinna Wirth ,&nbsp;Rainer Beurskens ,&nbsp;Elisa Ueding ,&nbsp;Tim Fischer ,&nbsp;Johanna Seifert","doi":"10.1016/j.prdoa.2025.100392","DOIUrl":"10.1016/j.prdoa.2025.100392","url":null,"abstract":"<div><h3>Background</h3><div>Oculomotor function has been established as a critical factor influencing balance, and both domains are frequently impaired in Parkinson’s disease (PD). Despite increasing recognition of younger PD cases, targeted therapeutic research remains limited.</div></div><div><h3>Purpose</h3><div>This pilot study evaluated the effects of a treadmill-based oculomotor dual-task intervention in individuals with PD, comparing its impact on balance and non-motor outcomes with that of Nordic walking (NW).</div></div><div><h3>Method</h3><div>Using a sequential within-subjects design, this study contrasts a four-week NW intervention with a subsequent four-week oculomotor intervention. Baseline, interim, and post-intervention assessments were conducted, with data collected using both qualitative and quantitative measures.</div></div><div><h3>Results</h3><div>The treadmill and oculomotor intervention led to greater improvements in unilateral and static balance parameters compared to NW, particularly under horizontal eye-movement conditions. While motor scores improved comparably in both interventions, non-motor domains such as emotional well-being and stigma improved only after the oculomotor protocol.</div></div><div><h3>Conclusion</h3><div>Treadmill-based oculomotor dual-task training appears to be a viable and time-efficient alternative to NW for improving specific aspects of balance and non-motor function in PD. Given its indoor feasibility and short duration, this approach may enhance accessibility in clinical and home-based rehabilitation settings.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100392"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity and the development of Parkinson’s disease within the Framingham Heart study cohort","authors":"Sarah O’Shea ,&nbsp;Yuilin Liu ,&nbsp;Chunyu Liu ,&nbsp;Samuel A. Frank ,&nbsp;Ludy C. Shih ,&nbsp;Rhoda Au","doi":"10.1016/j.prdoa.2024.100291","DOIUrl":"10.1016/j.prdoa.2024.100291","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the role of obesity in the development of Parkinson’s disease (PD).</div></div><div><h3>Background</h3><div>Obesity has been reported to be both a risk factor for PD, as well as potentially protective. The Framingham Heart Study (FHS) is a multigenerational longitudinal cohort study that was started in 1948, which is well-known for its cardiovascular health studies. In this study, we utilized the extensive cardiovascular and neurological data to determine if obesity contributes to the risk of the development of PD.</div></div><div><h3>Methods</h3><div>Participants in the FHS Original and Offspring cohorts were included in this study. Controls were selected based on sex and age at baseline examination, 1:10. Cox proportional hazard regression models were used, adjusting for age and sex. PD case status was determined utilizing prior medical and neurological examination data, Framingham Heart Study examinations, and self-report data by a panel of movement disorders neurologists using the UK Brain Bank Criteria (UKBB) and other supporting clinical details after being flagged for review by FHS neurologists. We used p &lt; 0.05 for significance.</div></div><div><h3>Results</h3><div>Accounting for missing covariate data, this study included 117 participants with PD, with 1170 controls. We found that higher BMI was associated with lower PD risk, with participants with BMI 25 kg/m2 to 30 kg/m2 having HR of 0.66 (CI 0.44–0.98; p = 0.04) and BMI &gt;= 30 kg/m2 having HR 0.47 (CI 0.27–0.84; p = 0.01). When the overweight and obese BMI groups were combined, we noted a more robust association, with combined HR of 0.67 (0.41–0.86; p = 0.01).</div></div><div><h3>Conclusions</h3><div>Obesity during mid-life potentially reduces the risk of developing PD; however, additional studies are needed to further explore this association.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100291"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11700282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of intraoperative monitoring in target selection in deep brain stimulation: A single centre study","authors":"Sandro Ibrulj ,&nbsp;Dejan Georgiev ,&nbsp;Žiga Samsa ,&nbsp;Polona Mušič ,&nbsp;Mitja Benedičič ,&nbsp;Maja Trošt","doi":"10.1016/j.prdoa.2025.100299","DOIUrl":"10.1016/j.prdoa.2025.100299","url":null,"abstract":"<div><h3>Introduction</h3><div>Intraoperative microelectrode recording (MER) and intraoperative test stimulation may provide vital information for optimal electrode placement and clinical outcome in movement disorders patients treated with deep brain stimulation (DBS). The aims of this retrospective study were to determine (i) how often the planned (imaging based) placements of electrodes were changed due to MER and intraoperative test stimulation in Parkinson’s disease (PD), dystonia and essential tremor (ET) patients; (ii) whether the frequency of repositioning changed over time; (iii) whether patients’ age or disease duration (in PD) influenced the frequency of repositioning.</div></div><div><h3>Methods</h3><div>Data on the planned and the final placement of 141 electrodes in 72 consecutive DBS treated patients (52 PD, 11 dystonia, 9 ET) was collected over the first 8 years of DBS implementation in a single center. An association between the rate of electrode repositioning and the patients’ age, disease duration and the time/year of implementation was explored.</div></div><div><h3>Results</h3><div>Analysis of all targets showed a change in final electrode placement in 39.7 % (56/141); 39.8 % (41/103) in PD, 40.9 % (9/22) in dystonia and 37.5 % (6/16) in ET. Annual analysis showed a decrease in rate of repositioning between the centre’s first and eighth year (p = 0.013) of implementation. No correlation was found between electrode repositioning rate and patient age (p = 0.42) nor disease duration (p = 0.09) in PD.</div></div><div><h3>Conclusion</h3><div>This retrospective analysis confirms the benefit of MER and intraoperative test stimulation during DBS surgery in determining the final electrode position during the early / initial period of implementing the procedure. Our findings show a learning curve in successful preoperative planning in our centre achieved through experience.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100299"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contribution of dopaminergic polymorphisms to levodopa treatment response and drug concentration in Chinese patients with Parkinson’s disease","authors":"Xiaoqin He ,&nbsp;Kai Shi ,&nbsp;Chengjun Mo ,&nbsp;Yi Zhang ,&nbsp;Qin Xiao ,&nbsp;Xiaodong Yang","doi":"10.1016/j.prdoa.2025.100333","DOIUrl":"10.1016/j.prdoa.2025.100333","url":null,"abstract":"<div><h3>Background</h3><div>Levodopa is the mainstay of treatments for Parkinson’s disease (PD), but large heterogeneity exists in patient response. Pharmacogenetic studies highlighted that genetic factors may play a relevant influence in this drug response variability.</div></div><div><h3>Objective</h3><div>To explore the relationship between dopaminergic polymorphisms, levodopa treatment response, and drug concentration in Chinese patients with PD.</div></div><div><h3>Methods</h3><div>Acute levodopa challenge test was conducted in 90 PD patients. Each patient underwent comprehensive neurological examination at baseline and after levodopa administration. Plasma levodopa concentrations were measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) analysis. Twelve genetic polymorphisms in genes encoding dopaminergic enzymes (TH, DDC, COMT, MAOB and DBH) were genotyped.</div></div><div><h3>Results</h3><div>Patients with the TH-rs6356 TT genotype showed higher ΔMDS-UPDRS-III scores compared to those with the CC + CT genotype after adjustment for the levodopa dose in the acute challenge test (P = 0.048). Furthermore, peak plasma levodopa concentration and Δplasma levodopa concentration were significantly higher in the TH-rs6356 TT group compared to the CC + CT group after adjustment (P = 0.007). Patients with the TH-rs6356 TT genotype exhibited a longer time to peak response compared to those with the CC + CT genotype (P = 0.042). However, this difference became non-significant after adjusting for levodopa dose (P = 0.066). The impact of other dopamine-related gene polymorphisms on levodopa efficacy appeared to be minimal in our study.</div></div><div><h3>Conclusions</h3><div>Our preliminary results from a relatively small patients’ sample, may suggest that the rs6356 polymorphism in the TH gene could act as a possible modifier of levodopa response in PD.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100333"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Minimal important changes of HFS-30 and HFS-7 questionnaires for patients with hemifacial spasm","authors":"Weerawat Saengphatrachai,&nbsp;Nutchara Inthapong,&nbsp;Yuvadee Pitakpatapee,&nbsp;Natthapon Rattanathamsakul,&nbsp;Prachaya Srivanitchapoom","doi":"10.1016/j.prdoa.2024.100295","DOIUrl":"10.1016/j.prdoa.2024.100295","url":null,"abstract":"<div><h3>Introduction</h3><div>Hemifacial spasm (HFS) significantly reduces health-related quality of life (HRQoL). Currently, the HFS-30 and HFS-7 questionnaires are used to evaluate the HRQoL in HFS patients; however, their minimal important changes (MICs) have not yet to be established. This study aimed to determine the MICs for HFS-30 and HFS-7 and patients’ characteristics associated with them.</div></div><div><h3>Methods</h3><div>Data were prospectively collected from HFS patients aged ≥18 years at a botulinum toxin clinic in a single tertiary university hospital between April 2022 and April 2023. We assessed HFS-30 and HFS-7 scores, Samsung Medical Center (SMC) grades, Patient Health Questionnaire-9 (PHQ-9) scores, and patient-reported HRQoL global rating of change scores at baseline, followed by assessments every two days for two weeks and at the one-month follow-up. MICs were determined based on the first follow-up visit when patients reported minimal improvement.</div></div><div><h3>Results</h3><div>The 112 enrolled patients had a median age of 62.8 years (IQR: 56.6–69.3) and a median disease duration of 10 years (IQR: 4–17). The MICs of the HFS-30 and HFS-7 questionnaires were −4.55 points (95 % CI: −5.49 to −3.62) and −0.96 points (95 % CI: −1.28 to −0.64), respectively. Patients with moderate-to-severe depression reported significantly greater MICs than those with milder depression (p &lt; 0.001). Patients aged less than 60 had significantly greater MICs than older patients (p = 0.045).</div></div><div><h3>Conclusions</h3><div>The MICs of the HFS-30 and HFS-7 questionnaires were −4.55 and −0.96, respectively. The MIC is substantially greater in HFS patients with moderate-to-severe depression and younger age.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100295"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143176207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}