Clinical Parkinsonism Related Disorders最新文献

{"title":"Comparative safety of istradefylline in Parkinson’s disease: A systematic review of randomized controlled trials and real-world studies","authors":"Sagari Betté ,&nbsp;Joyce Qian ,&nbsp;Hannah Cummings ,&nbsp;Hiroo Shimoda ,&nbsp;Katsumi Shinoda ,&nbsp;Ashley Thai ,&nbsp;Sarah Batson ,&nbsp;Gabrielle Redhead ,&nbsp;Alexander Hodkinson ,&nbsp;Daniel Truong","doi":"10.1016/j.prdoa.2025.100307","DOIUrl":"10.1016/j.prdoa.2025.100307","url":null,"abstract":"<div><h3>Introduction</h3><div>Istradefylline offers a novel mechanism (adenosine A_2A receptor antagonism) to treat OFF episodes in Parkinson’s disease (PD). It may potentially offer improved tolerability versus other adjuncts, but comparative safety data are lacking.</div></div><div><h3>Methods</h3><div>A systematic review and Bayesian network <em>meta</em>-analysis (NMA) incorporating RCTs of PD adjuncts until January 10, 2024, was conducted to estimate relative safety. Inconsistency was assessed and heterogeneity evaluated by global I²-statistic and between-study heterogeneity. Incidences of safety outcomes were summarized from RWE identified according to the same criteria.</div></div><div><h3>Results</h3><div>100 RCTs and 55 RWE publications were identified; 76 RCTs were included in NMAs. Istradefylline demonstrated lower odds of serious AEs (odds ratio [OR] = 0.56; 95 % CrI: 0.32, 0.99), treatment-emergent AEs (0.43; 0.25, 0.73), treatment-related AEs (0.33; 0.19, 0.56), hallucinations (0.25; 0.06, 0.97), and withdrawal due to AEs (0.37; 0.19, 0.68) versus amantadine. Istradefylline showed lower odds of dyskinesia (0.63; 0.41, 0.99) and hypotension (0.19; 0.03, 0.82) versus catechol-<em>O</em>-methyl transferase inhibitors (COMTi), lower odds of nausea (0.58; 0.33, 0.99) versus dopamine agonists (DA), and lower odds of hypotension (0.09; 0.01, 0.52) versus monoamine oxidase-B inhibitors (MAO-Bi). Sensitivity analysis of RCTs published since 2000 found a reduction in odds of dyskinesia and hallucinations for istradefylline versus DA. RWE were heterogeneous but demonstrated lower incidence of certain AEs with istradefylline, specifically dyskinesia (versus MAO-Bi), somnolence (versus DA and COMTi), peripheral edema and hallucinations (versus amantadine), and nausea (versus all comparators).</div></div><div><h3>Conclusion</h3><div>Istradefylline exhibits a favorable safety profile versus other PD adjuncts, as demonstrated by RCTs and RWE.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100307"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143463456","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":"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":"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}

{"title":"Assessment of social isolation and changes in Parkinson’s disease symptoms during the COVID-19 pandemic: A longitudinal study","authors":"Anish Mehta ,&nbsp;Samuel Y.E. Ng ,&nbsp;Shermyn X.M. Neo ,&nbsp;Nicole S.Y. Chia ,&nbsp;Ehsan S. Saffari ,&nbsp;Thyagarajan Shivashanmugam ,&nbsp;Xinyi Choi ,&nbsp;Dede L. Heng ,&nbsp;Z.Y. Xu ,&nbsp;K.Y. Tay ,&nbsp;W.L. Au ,&nbsp;E.K. Tan ,&nbsp;Louis C.S. Tan","doi":"10.1016/j.prdoa.2024.100293","DOIUrl":"10.1016/j.prdoa.2024.100293","url":null,"abstract":"<div><h3>Background</h3><div>COVID-19-related social restrictions provided an opportunity to evaluate the impact of social isolation on Parkinson’s disease.</div></div><div><h3>Objective</h3><div>This study aimed to explore changes in social isolation and their associations with PD symptoms using the Lubben Social Network Scale-Revised (LSNS-R).</div></div><div><h3>Methods</h3><div>Data from 80 participants of the Early Parkinson’s Disease Longitudinal Singapore cohort were collected from April 2019 to April 2023, covering the periods before and after the imposition of COVID-19 restrictions. Individuals with LSNS-R scores ≤ 24 were considered socially isolated. Data were stratified into strata 1 (improved LSNS-R scores) and strata 2 (worsened/unchanged scores). Linear regression was used to identify predictors of LSNS-R change, and MANCOVA was used to examine associations between LSNS-R change and motor/ non-motor symptoms.</div></div><div><h3>Results</h3><div>Mean LSNS-R scores decreased (p = 0.014), and proportions of social isolation increased (p &lt; 0. 001) during COVID-19 restrictions. However, 35 % showed improved LSNS-R scores, while 65 % had worsened/unchanged scores. The regression model was significant in strata 1 (R2 = 0.806, p = 0.001), with age, marital status, and social isolation status being significantly associated with change in LSNS-R scores. LSNS-R. Results of MANCOVA indicated that LSNS-R improvements in LSNS-R were significantly associated with outcomes (Roy’s Largest Root statistic = 126.638, p &lt; 0.001), particularly for changes in PDQ8, HADS-Anxiety, and HADS-Depression scores. The regression model was not significant in strata 2 (R2 = 0. 279, p = 0.206), wherein motor and non-motor symptoms worsened.</div></div><div><h3>Conclusion</h3><div>While worsening LSNS-R scores were associated with poorer outcomes, improvements in social networks were associated with improved non-motor symptoms and quality of life. These findings underscore the complexity of social isolation in PD and the need for targeted interventions.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100293"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11696853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932879","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":"Hospital utilization and telemedicine preferences in patients with late-stage Parkinson’s disease and caregivers","authors":"Seo Hyun Hong ,&nbsp;Seoyeon Kim ,&nbsp;Seungmin Lee ,&nbsp;Bora Jin ,&nbsp;Jung Hwan Shin ,&nbsp;Kyung Ah Woo ,&nbsp;Han-Joon Kim","doi":"10.1016/j.prdoa.2024.100296","DOIUrl":"10.1016/j.prdoa.2024.100296","url":null,"abstract":"<div><h3>Background</h3><div>There remains a significant gap in systematic research on healthcare utilization behaviors and the influencing factors for patients with Parkinson’s disease (PD), particularly those in late stages.</div></div><div><h3>Methods</h3><div>PD patients in late stage (Hoehn and Yahr (HY) stages 4 and 5) and their caregivers from Seoul National University Hospital Movement Disorders Clinic participated. A total of 103 respondents completed a questionnaire covering medical utilization behaviors, perceptions of face-to-face and telemedicine consultations, and additional medical service needs. Descriptive analysis was conducted based on HY stage, age, and travel time to the hospital.</div></div><div><h3>Results</h3><div>82.1% of patients in HY4 make more than 50% of in-person visits by themselves or with caregivers, compared with only 38.9% of patients in HY5. Despite proxy visits by caregivers were common, audiovisual or written materials about the patient’s condition were underused (63% answered ‘never’). Over three-quarters of patients did not receive rehabilitation therapy, mainly due to mobility issues and the lack of nearby facilities. One third of respondents were open to telemedicine, with differing preferences between age groups. 22% of HY5 patients or their caregivers were willing to pay more for telemedicine than in-person visit.</div></div><div><h3>Conclusion</h3><div>This study seeks to understand hospital use patterns and needs in late-stage PD patients and their caregivers. Current treatment framework for PD has areas that, if improved, could significantly enhance the quality of care. Telemedicine offers an opportunity to enhance PD education and assessment, introducing new methods for remotely measuring symptoms.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100296"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11754006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029659","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":"Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions","authors":"Nicola Rifino ,&nbsp;Silvia Baratta ,&nbsp;Esteban Zacarias ,&nbsp;Isabella Canavero ,&nbsp;Benedetta Storti ,&nbsp;Mario Stanziano ,&nbsp;Emanuela Maderna ,&nbsp;Gianluca Marucci ,&nbsp;Franco Taroni ,&nbsp;Anna Bersano","doi":"10.1016/j.prdoa.2025.100297","DOIUrl":"10.1016/j.prdoa.2025.100297","url":null,"abstract":"<div><div>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T &gt; A (p.Cys522Ser) mutation associated with early-onset parkinsonism and significant white matter lesions. We describe a patient who presented with early-onset parkinsonism, characterized by bradykinesia and rigidity, alongside extensive white matter lesions observed through neuroimaging. Genetic testing revealed a novel c.1564 T &gt; A (p.Cys522Ser) mutation in the NOTCH3 gene, contributing to the clinical diagnosis of CADASIL. This case underscores the phenotypic variability of CADASIL and the potential for atypical presentations, including parkinsonism. Early identification of genetic mutations can facilitate appropriate management and counseling for affected individuals and their families. Further research is warranted to explore the mechanisms underlying the association between NOTCH3 mutations and parkinsonism. Our findings contribute to the understanding of CADASIL, suggesting that clinicians should consider CADASIL in differential diagnoses of early-onset parkinsonism, especially in patients with concurrent white matter lesions.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100297"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060744","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":"Autophagy related genes polymorphisms in Parkinson’s Disease; A systematic review of literature","authors":"Parastoo Yousefi ,&nbsp;Shahrzad Ghadirian ,&nbsp;Maryam Mobedi ,&nbsp;Mehrzad Jafarzadeh ,&nbsp;Adib Alirezaei ,&nbsp;Ali Gholami ,&nbsp;Alireza Tabibzadeh","doi":"10.1016/j.prdoa.2025.100312","DOIUrl":"10.1016/j.prdoa.2025.100312","url":null,"abstract":"<div><h3>Background</h3><div>Neurodegenerative diseases are mainly a consequence of degenerated proteins in neurons. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders and is characterized by Lewy body deposition. Autophagy is known as one of the cell maintenance mechanisms. Autophagy targets are damaged or degenerated macromolecules and organelles for lysosomal degradation. The role of disrupted autophagy in PD was established earlier. In this regard, the current study aimed to evaluate the frequency and status of the autophagy gene polymorphisms in PD by a systematic review approach.</div></div><div><h3>Materials and methods</h3><div>In the current study, electronic databases including Scopus, PubMed, and Science Direct were used for the search. The search was performed by using Parkinson’s disease, autophagy, autophagy-related gene, ATG, Single-nucleotide polymorphisms, variant, Sequence variants, and with a date limitation of 2010 to 2023. All original research papers in the English language that evaluate the ATG polymorphisms in PD were included in the study.</div></div><div><h3>Results</h3><div>The conducted search leads to 2626 primary studies screened based on the inclusion criteria. After the screening stage, 8 studies were included. ATG7 rs1375206 and ATG5 rs510432, rs573775 and rs17587319 were associated with PD. However, some other polymorphisms in ATGs that were not associated with PD were listed.</div></div><div><h3>Conclusion</h3><div>In conclusion, regardless of the critical role of autophagy in PD pathogenesis, it seems that ATG16 and ATG7 polymorphisms are not associated with PD; however, ATG7 rs1375206 needs more evaluation for a clearer conclusion in future studies. ATG5 and ATG12 polymorphisms seem to be more important in PD. More comprehensive studies about all ATG5, 7, 12, and 16 seem to be urgently required for a conclusive judgment about their role in PD or even other neurodegenerative disorders.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100312"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509516","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":"Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onset KMT2B-related dystonia","authors":"Georges-Junior Kahwagi ,&nbsp;Cécile Hubsch ,&nbsp;Lydie Burglen ,&nbsp;Jean-Philippe Brandel ,&nbsp;Sophie Sangla ,&nbsp;Clément Desjardins","doi":"10.1016/j.prdoa.2025.100314","DOIUrl":"10.1016/j.prdoa.2025.100314","url":null,"abstract":"<div><div>We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution<!--> <!-->KMT2B-dystonia.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100314"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563042","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":"A four-year trajectory of Alexithymia in Parkinson’s disease patients","authors":"Lea Krey,&nbsp;Annika Heike Ritzrau,&nbsp;Theresa Schnur,&nbsp;Stephan Greten,&nbsp;Florian Wegner,&nbsp;Martin Klietz","doi":"10.1016/j.prdoa.2025.100298","DOIUrl":"10.1016/j.prdoa.2025.100298","url":null,"abstract":"<div><div>The aim of this study was to assess the presence of Alexithymia in Parkinson’s disease (PD) patients compared to their caregivers (CG) and to investigate whether Alexithymia progressed over a 4-year observational period. Alexithymia in PD is a cognitive affective disturbance resulting in difficulty to identify, distinguish and describe feelings and it is known to be strongly associated with health-related quality of life and other cognitive/ neuropsychiatric symptoms. So far, there have been no longitudinal investigations of Alexithymia in PD. We recruited 34 moderately progressed PD patients (mean disease duration of 8.9 ± 5.3 years) and their caregivers in our neurological department and did a baseline and follow-up assessment using the validated Toronto Alexithymia Scale-26 (TAS-26). Our data show that Alexithymia is more abundant in the PD cohort compared to their caregivers (p = 0.007, PD 21 %, CG 6 % at follow-up). In the 4-year observational period, Alexithymia did not increase significantly in PD patients or caregivers. However, there was a high variance in Alexithymia scores in both groups. It remains unclear when Alexithymia appears during the disease course and whether there is a dynamic in Alexithymia scores later in PD progression. This should be the objective for future studies of Alexithymia in advanced PD patients.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100298"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081274","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}