Clinical Parkinsonism Related Disorders最新文献

{"title":"Frequency of tremor in people with multiple sclerosis: A systematic review and meta-analysis","authors":"Saeed Vaheb ,&nbsp;Danial Dehghani Firouzabadi ,&nbsp;Hamed Ghoshouni ,&nbsp;Mohammad Yazdan Panah ,&nbsp;Vahid Shaygannejad ,&nbsp;Omid Mirmosayyeb","doi":"10.1016/j.prdoa.2025.100315","DOIUrl":"10.1016/j.prdoa.2025.100315","url":null,"abstract":"<div><h3>Background</h3><div>Multiple sclerosis (MS) is a chronic neurodegenerative disorder causing various symptoms, including tremors, which significantly affect the quality of life and disability in people with MS (PwMS). Previous studies report a wide range of tremor frequency in PwMS, necessitating a comprehensive review for reliable estimates.</div></div><div><h3>Objectives</h3><div>This review aimed to elucidate the frequency rate of tremor among PwMS.</div></div><div><h3>Method</h3><div>A systematic search was conducted in PubMed/MEDLINE, Embase, Scopus, and Web of Science up to April 27, 2024, to identify studies evaluating various types of tremors in PwMS. The Meta-proportion method implemented in R software version 4.0.0, utilizing a random-effects model, was employed to estimate the pooled frequency rates of tremor, with its 95% confidence interval (CI), among PwMS.</div></div><div><h3>Results</h3><div>From 3780 studies, 14 studies encompassing 17,458 PwMS (71.5 % female) were included. The mean age was 46.4 years, with a disease duration of 9.3 years and an Expanded Disability Status Scale (EDSS) score of 3.4. The pooled frequency of tremor was 33.32 % (95 % CI: 23.47 % to 44.88 %; I² = 98 %; <em>p</em>-heterogeneity &lt; 0.01). Subgroup analysis by sample size revealed that the pooled frequency of tremor in PwMS was significantly lower (<em>p</em>-value &lt; 0.01) in studies with over 200 participants (22.46, 95 % CI: 15.69 % to 31.08 %, I² = 99 %; <em>p</em>-heterogeneity &lt; 0.01) compared to those with fewer than 200 participants (47.65, 95 % CI: 31.97 % to 63.81 %, I² = 91 %; <em>p</em>-heterogeneity &lt; 0.01)</div></div><div><h3>Conclusion</h3><div>Tremor is a prevalent complaint in PwMS. These findings highlight the necessity for targeted supportive, therapeutic, and rehabilitative interventions to effectively address this prevalent issue in PwMS.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100315"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679783","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":"Impact of istradefylline on motor and non-motor symptoms in patients with Parkinson’s disease: Subanalysis of the ISTRA ADJUST PD","authors":"Hiroshi Nagayama ,&nbsp;Osamu Kano ,&nbsp;Renpei Sengoku ,&nbsp;Naotake Yanagisawa ,&nbsp;Asako Yoritaka ,&nbsp;Keisuke Suzuki ,&nbsp;Noriko Nishikawa ,&nbsp;Yohei Mukai ,&nbsp;Kyoichi Nomura ,&nbsp;Norihito Yoshida ,&nbsp;Morinobu Seki ,&nbsp;Miho Kawabe Matsukawa ,&nbsp;Hiroo Terashi ,&nbsp;Katsuo Kimura ,&nbsp;Jun Tashiro ,&nbsp;Shigeki Hirano ,&nbsp;Hidetomo Murakami ,&nbsp;Hideto Joki ,&nbsp;Tsuyoshi Uchiyama ,&nbsp;Hideki Shimura ,&nbsp;Taku Hatano","doi":"10.1016/j.prdoa.2025.100327","DOIUrl":"10.1016/j.prdoa.2025.100327","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson’s disease (PD) presents with diverse motor and non-motor symptoms, some of which do not fully respond to dopamine replacement therapy. To clarify the effects of the adenosine A_2A receptor antagonist istradefylline (IST) on PD symptoms, we conducted a subanalysis of the 37-week ISTRA ADJUST PD randomized controlled trial.</div></div><div><h3>Methods</h3><div>Patients with PD experiencing wearing-off with levodopa at 300–400 mg/day were randomized 1:1 to receive IST or no IST (control). Levodopa doses were titrated according to clinical severity throughout the study. PD symptoms were assessed using the Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) and Parkinson’s Disease Questionnaire-39 (PDQ-39).</div></div><div><h3>Results</h3><div>The efficacy analyses included 105 patients (IST, n = 52; control, n = 53). Regarding MDS-UPDRS subitems in patients in the IST group, significant improvements (<em>p</em> &lt; 0.05) were observed at week 36 compared with baseline for both motor (e.g., facial expression, rigidity, finger tapping, toe tapping, time spent in the off state, and complexity of motor fluctuation) and non-motor (e.g., daytime sleepiness, fatigue, and doing hobbies and other activities) symptoms. In patients in the control group, significant improvements (<em>p</em> &lt; 0.05) were observed for motor symptoms only. Regarding PDQ-39 subitems in patients in the IST group, significant improvements (<em>p</em> &lt; 0.05) were observed at week 36 compared with baseline in doing up buttons or shoelaces, writing, feeling angry or bitter, and unexpectedly falling asleep during the day.</div></div><div><h3>Conclusion</h3><div>IST can improve motor and non-motor symptoms and quality of life suggesting that it provides more comprehensive improvement in PD symptoms than increasing the levodopa dose alone.</div></div><div><h3>Clinical trial registration:</h3><div>Japan Registry of Clinical Trials; study ID: jRCTs031180248.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100327"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859562","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 pimavanserin on prescribing practices in parkinson disease","authors":"Thanh Phuong Pham Nguyen ,&nbsp;Vy Le ,&nbsp;Daniel Weintraub ,&nbsp;Allison W. Willis","doi":"10.1016/j.prdoa.2025.100317","DOIUrl":"10.1016/j.prdoa.2025.100317","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson disease psychosis (PDP) is a common complication of PD. Until 2016, the only drugs available to treat PDP in the U.S. were antipsychotics with variable degrees of dopamine-receptor antagonism (DRA) that may worsen PD motor symptoms. We evaluated the impact that pimavanserin, a selective serotonin receptor inverse agonist/antagonist atypical antipsychotic (AAP) with no known DRA, had on PDP treatment practices in a commercially insured population.</div></div><div><h3>Methods</h3><div>We included adults diagnosed with PD who filled at least one AAP prescription from 2016 to 2022. AAP dispensings were categorized into (1) pimavanserin, (2) clozapine and quetiapine (i.e., PDP-“preferred” mixed receptor antagonist AAPs), and (3) the remaining AAPs (i.e., PDP-“nonpreferred” mixed receptor antagonist AAPs). Trends in quarterly dispensing rates per 1000 persons treated were compared across categories. Secondary analyses focused on the 65+ subpopulations insured by Medicare Advantage programs.</div></div><div><h3>Results</h3><div>Dispensing rates varied between 4 and 697/1000 persons treated for pimavanserin, 1434–1821 for preferred, and 394–746 for nonpreferred AAPs. Pimavanserin dispensings surpassed the nonpreferred category after quarter 3 of 2018. However, preferred AAPs, particularly quetiapine, remained the most dispensed category in the sixth year after pimavanserin’s approval. We observed similar trends among Medicare Advantage enrollees.</div></div><div><h3>Conclusion</h3><div>The availability of pimavanserin was followed by a decline in the use of the most harmful AAPs in persons living with PD. Quetiapine remained the most prescribed AAP. Comparative safety and effectiveness studies are needed to define the relative risks and benefits of treatment options in PDP.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100317"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643126","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":"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":"Nocturnal polyuria is common in Parkinson’s and is associated with orthostatic hypotension","authors":"Matthew D Smith ,&nbsp;Anisha Cullen ,&nbsp;Gabriella E Portlock ,&nbsp;Marcus J Drake ,&nbsp;Yoav Ben-Shlomo ,&nbsp;Emily J Henderson","doi":"10.1016/j.prdoa.2025.100334","DOIUrl":"10.1016/j.prdoa.2025.100334","url":null,"abstract":"<div><h3>Background</h3><div>Nocturia is the most common lower urinary tract symptom (LUTS) in Parkinson’s disease (PD) and impacts sleep and subsequent daytime function. Often nocturia in PD is attributed to overactive bladder, however we explored the contribution of the over-production of urine at night, nocturnal polyuria (NP), as another factor.</div></div><div><h3>Objectives</h3><div>To assess the prevalence and severity of NP in a PD cohort with LUTS and explore associations with autonomic and other patient characteristics.</div></div><div><h3>Methods</h3><div>Sub-study nested within a trial for LUTS in PD. All participants performed 72-hour bladder diaries. Nocturnal polyuria index (NPi) was calculated from diaries and key associations were explored.</div></div><div><h3>Results</h3><div>62.6 % of participants had NP based on the NPi33 threshold (producing &gt; 33 % urine at night). Increasing NPi was strongly significantly associated with greater nocturia (OR 1.7 per 5 % NPi unit; 1.5–2.0; <em>P &lt; 0.001</em>). A significant association was observed between NPi and orthostatic hypotension (OR 1.2 per 5 % NPi unit increase; 1.0–1.4; <em>P = 0.03</em>) and reported cardiovascular symptoms (coefficient 0.07; 0.03–0.11; <em>P = 0.002</em>). A marked association was seen with severe NP and orthostatic hypotension (OR 4.9; 1.56–15.57; <em>P = 0.006</em>).</div></div><div><h3>Conclusion</h3><div>NP is very common in this PD cohort symptomatic for LUTS, and is closely associated with increasing rate of nocturia. NP is linked to cardiovascular symptoms and autonomic dysfunction, particularly blood pressure lability which may be causal or simply reflect advanced disease state.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100334"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143881498","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}

{"title":"GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region","authors":"Rodolfo Tonin ,&nbsp;Silvia Ramat ,&nbsp;Marina Rinaldi ,&nbsp;Silvia Falliano ,&nbsp;Federica Feo ,&nbsp;Francesca Cardona ,&nbsp;Camilla Matassini ,&nbsp;Guido Mannaioni ,&nbsp;Giulia Grigioni ,&nbsp;Luca Caremani ,&nbsp;Alessandra Govoni ,&nbsp;Maria Luisa Della Bona ,&nbsp;Giancarlo la Marca ,&nbsp;Renzo Guerrini ,&nbsp;Amelia Morrone","doi":"10.1016/j.prdoa.2025.100326","DOIUrl":"10.1016/j.prdoa.2025.100326","url":null,"abstract":"<div><h3>Introduction</h3><div>heterozygous mutations in the glucocerebrosidase gene (<em>GBA1</em>), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD). To assess the frequency of <em>GBA1</em> variants related to PD in a cohort of Tuscany patients and to determine the link between <em>GBA1</em> variants and motor and non-motor clinical features in PD.</div></div><div><h3>Methods</h3><div>We screened GCase enzyme activity on Dried Blood Spot using tandem mass spectrometry (LC-MS/MS) and performed sequencing analysis on entire cohort of PD patients by Next Generation Sequencing (NGS) technology. Variants were confirmed with Sanger method.</div></div><div><h3>Results</h3><div>among the 252 PD patients, we detected reduced GCase activity (≤5 μmol/h/L) in 78 (31%). NGS analysis identified 22 carriers of <em>GBA1</em> variants (8.7%) in whom 14 carried common <em>GBA1</em> variants currently known to be related to PD (Leu444Pro, Asn370Ser, Glu326Lys, Thr369Met and Asp409His). PD patients who were heterozygous<!--> <!-->carriers<!--> <!-->of pathogenic<!--> <em>GBA1</em> <!-->variants presented with earlier onset of PD, faster disease progression and a more frequent non-motor symptoms compared to the remaining PD patients without <em>GBA1</em> mutations.</div></div><div><h3>Conclusions</h3><div>8.7% of the 252 PD patients carried <em>GBA1</em> variants at a heterozygous level, and their clinical presentation and progression were more severe compared to other patients within our cohort.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100326"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839288","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}