Clinical Parkinsonism Related Disorders最新文献

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Bioequivalence of Foslevodopa/Foscarbidopa continuous subcutaneous infusion to arm, thigh, or flank versus abdomen in healthy and advanced Parkinson’s disease individuals 健康和晚期帕金森病患者手臂、大腿或腹部持续皮下输注Foslevodopa/Foscarbidopa与腹部的生物等效性
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100359
Yi Rang Han , Anna Jeong , Kanwal Ayub , Shelly V. Gupta , Lars Bergmann , Drew S. Kern , Fernando Pagan , Matthew Rosebraugh
{"title":"Bioequivalence of Foslevodopa/Foscarbidopa continuous subcutaneous infusion to arm, thigh, or flank versus abdomen in healthy and advanced Parkinson’s disease individuals","authors":"Yi Rang Han ,&nbsp;Anna Jeong ,&nbsp;Kanwal Ayub ,&nbsp;Shelly V. Gupta ,&nbsp;Lars Bergmann ,&nbsp;Drew S. Kern ,&nbsp;Fernando Pagan ,&nbsp;Matthew Rosebraugh","doi":"10.1016/j.prdoa.2025.100359","DOIUrl":"10.1016/j.prdoa.2025.100359","url":null,"abstract":"<div><h3>Background</h3><div>Foslevodopa/foscarbidopa (LDp/CDp) are soluble prodrugs of levodopa/carbidopa delivered as a continuous subcutaneous infusion (CSCI) via a portable pump to provide continuous levodopa exposures.</div></div><div><h3>Objective</h3><div>To assess the safety of LDp/CDp and the relative bioavailability of levodopa/carbidopa following LDp/CDp 24-hour CSCI administration to the arm, thigh, and flank versus the abdomen.</div></div><div><h3>Methods</h3><div>Two open-label, randomized crossover studies (healthy adult volunteers [HV]; adults with advanced Parkinson’s disease [aPD]; NCT05094050) evaluated 24-hr CSCI of LDp/CDp to different infusion sites (abdomen, arm, thigh, flank), each designated as a study regimen. Participants in the aPD study had levodopa-responsive idiopathic Parkinson’s disease with ≥2.5 h of “Off” time/day. In the HV study, each LDp/CDp regimen was administered over 24 h, with 72-hour washout periods between regimens. In the aPD study, LDp/CDp was administered for 2 consecutive days at each infusion site, with no washout between regimens.</div></div><div><h3>Results</h3><div>For both levodopa and carbidopa, the 90% confidence intervals for both exposure measures (AUC and C<sub>max</sub>) were within the 80–125% range for the comparison between the abdomen and each alternate infusion site, meeting the criteria for bioequivalence. The most commonly reported treatment-emergent adverse events (TEAEs) were mild infusion site reactions, which occurred in 3/12 participants (HV study) and 9/16 participants (aPD study). There were no serious TEAEs and no event led to early discontinuation in either study.</div></div><div><h3>Conclusions</h3><div>The pharmacokinetics of levodopa and carbidopa demonstrated that the abdomen, arm, thigh, and flank are interchangeable sites for CSCI of LDp/CDp. There were no concerning patterns of adverse events.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100359"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144472215","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}
引用次数: 0
The impact of mild-to-moderate cortical cognitive deficits on post-operative outcomes in deep brain stimulation for Parkinson’s disease: Considerations for patient selection 轻度至中度皮质认知缺陷对帕金森病深部脑刺激术后预后的影响:患者选择的考虑
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100361
Marina Sarno, Scott Harcourt, Annelly Bure-Reyes, Jonathan Jagid, Corneliu Luca, Bonnie Levin, Ihtsham Haq
{"title":"The impact of mild-to-moderate cortical cognitive deficits on post-operative outcomes in deep brain stimulation for Parkinson’s disease: Considerations for patient selection","authors":"Marina Sarno,&nbsp;Scott Harcourt,&nbsp;Annelly Bure-Reyes,&nbsp;Jonathan Jagid,&nbsp;Corneliu Luca,&nbsp;Bonnie Levin,&nbsp;Ihtsham Haq","doi":"10.1016/j.prdoa.2025.100361","DOIUrl":"10.1016/j.prdoa.2025.100361","url":null,"abstract":"<div><h3>Introduction</h3><div>Subcortical deficits in Parkinson’s disease (PD) are well studied; however, deep brain stimulation (DBS) risks posed by mild-moderate deficits in semantic fluency, verbal memory storage, and confrontation naming are not as well understood. This study aims to better define DBS risk stratification criteria by evaluating whether pre-DBS cortical domain deficits predict surgical outcomes, including cognition, mood, quality of life, medication and motor function in patients with PD.</div></div><div><h3>Methods</h3><div>A retrospective study was conducted with 50 PD patients who underwent pre- and post-surgical neurological and neuropsychological evaluations between 2015 and 2023. Patients were categorized into normal, mildly impaired, and moderately impaired cognitive groups based on pre-surgical neuropsychological testing. Bayesian paired-sample t-tests compared pre- and post-surgery outcomes in motor function, medication use, quality of life, mood, and cognition.</div></div><div><h3>Results</h3><div>No significant differences were found in demographic or clinical variables across cognitive groups. In the normal cognition group, there was a credible decline in memory and anxiety. The mildly impaired group showed a weak decline in delayed word list memory. The moderately impaired group had no significant changes in cognitive or mood variables. Medication use reliably decreased post-surgically across all groups. There was no significant change in motor function or quality of life post-DBS.</div></div><div><h3>Conclusion</h3><div>Mild to moderate cognitive impairments in memory and language do not significantly affect post-surgical outcomes. Our preliminary findings warrant further confirmation with larger sample sizes and long-term follow-up when assessing DBS candidacy in those with pre-surgical cognitive deficits. Comprehensive neuropsychological evaluations can assist in proper risk stratification and informed patient selection.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100361"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144502087","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}
引用次数: 0
Functional outcomes in older patients after Parkinson’s disease diagnosis in Japan: The LIFE study 日本老年帕金森病患者诊断后的功能结局:LIFE研究
IF 1.8
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100375
Masayo Komatsu , Sanyu Ge , Yasuyoshi Kimura , Ling Zha , Nobuhiro Narii , Yuki Okita , Yoshimitsu Shimomura , Yasufumi Gon , Fumiko Murata , Megumi Maeda , Sho Komukai , Kosuke Kiyohara , Tetsuhisa Kitamura , Hideki Mochizuki , Haruhisa Fukuda
{"title":"Functional outcomes in older patients after Parkinson’s disease diagnosis in Japan: The LIFE study","authors":"Masayo Komatsu ,&nbsp;Sanyu Ge ,&nbsp;Yasuyoshi Kimura ,&nbsp;Ling Zha ,&nbsp;Nobuhiro Narii ,&nbsp;Yuki Okita ,&nbsp;Yoshimitsu Shimomura ,&nbsp;Yasufumi Gon ,&nbsp;Fumiko Murata ,&nbsp;Megumi Maeda ,&nbsp;Sho Komukai ,&nbsp;Kosuke Kiyohara ,&nbsp;Tetsuhisa Kitamura ,&nbsp;Hideki Mochizuki ,&nbsp;Haruhisa Fukuda","doi":"10.1016/j.prdoa.2025.100375","DOIUrl":"10.1016/j.prdoa.2025.100375","url":null,"abstract":"<div><h3>Background</h3><div>The association between care needs level (CNL) and functional outcomes after diagnosis in older patients with Parkinson’s disease (PD) is unclear.</div></div><div><h3>Methods</h3><div>Using health insurance claims and the Japanese Long-Term Care (LTC) data from 12 municipalities in Japan, PD patients aged ≥ 65 years old were identified between April 2014 and March 2022. CNL was classified as no care needed (NCN), support level (SL), CNL1 (low level), CNL2-3, and CNL4-5 (fully dependent) based on the total estimated daily care hours as defined by the national standard criteria. The primary outcomes were changes in CNL and all-cause death one year after PD diagnosis by baseline CNL at diagnosis.</div></div><div><h3>Results</h3><div>Of the 11,270 PD patients, 39.8% had NCN, 27.6% SL&amp;CNL1, 18.8% CNL2-3, and13.9% CNL4-5 at PD diagnosis. One-year after diagnosis, there were NCN 28.2%, SL&amp;CNL1 24.9%, CNL2-3 19.2%, CNL4-5 17.6% (i.e., 61.7% required care need), and all-cause death 10.1%. Compared with NCN patients at diagnosis, patients with SL&amp;CNL1, CNL2-3, and CNL4-5 had an increased risk of all-cause death one-year after diagnosis (adjusted hazard ratio [95% confidence interval]: 1.58 [1.29–1.93], 2.83 [2.32–3.46], and 5.80 [4.76–7.06]), assessed by using Cox proportional hazard models.</div></div><div><h3>Conclusions</h3><div>Baseline CNL in older Japanese patients was associated with all-cause death even one-year after PD diagnosis, and high CNL was associated with a high risk of all-cause death.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100375"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738668","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}
引用次数: 0
Nonmotor symptoms in Parkinson’s disease patients in South Asia: A systematic review and meta-analysis 南亚帕金森病患者的非运动症状:系统回顾和荟萃分析
IF 1.8
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100374
Prayash Paudel, Asutosh Sah
{"title":"Nonmotor symptoms in Parkinson’s disease patients in South Asia: A systematic review and meta-analysis","authors":"Prayash Paudel,&nbsp;Asutosh Sah","doi":"10.1016/j.prdoa.2025.100374","DOIUrl":"10.1016/j.prdoa.2025.100374","url":null,"abstract":"<div><h3>Background</h3><div>The most common movement disorder and neurodegenerative disorder that progresses over time, Parkinson’s disease, has both motor and nonmotor symptoms. Asia is home to half of the world’s elderly population, and Parkinson’s disease is a common condition in this demographic.</div></div><div><h3>Objectives</h3><div>We aimed to estimate the pooled prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia based on the available literature.</div></div><div><h3>Methods</h3><div>The study protocol was registered on PROSPERO with reference number CRD42024579956. Databases were searched for observational studies from 2000 to 2024 in English that have assessed the prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia via validated tools. High-quality studies were included after quality assessment. A random-effects model was used to calculate the pooled prevalence with a 95 % confidence interval.</div></div><div><h3>Results</h3><div>Among the 50 articles (4931 participants) included in the review, 9 (862 participants) used the Nonmotor Symptoms Questionnaire, 9 (803 participants) used the Nonmotor Symptoms Scale, 2 (171 participants) used both, and the remaining 30 (3095 participants) used other validated tools to assess nonmotor symptoms in South Asian patients with Parkinson’s disease. The prevalence of nonmotor symptoms was high, with nocturia being the most prevalent. Psychological symptoms were frequently explained via other tools.</div></div><div><h3>Conclusions</h3><div>Our research is among the few clinical accounts in the literature of the prevalence of nonmotor stmptoms in South Asian Parkinson’s disease patients. Although the heterogeneity of the results could not be fully explained, our study could significantly enhance the understanding of symptoms, leading to more tailored therapeutic and diagnostic strategies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100374"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144748595","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}
引用次数: 0
Corrigendum to “Spatial variability and directional shifts in postural control in Parkinson’s disease” [Clin. Parkinsonism Relat. Disord. (2024) 10, 100249] “帕金森病中姿势控制的空间变异性和方向变化”的更正[临床]。帕金森症遗传代数。Disord。(2024) 10, 100249]
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100308
Damian G. Kelty Stephen , Ken Kiyono , Nick Stergiou , Madhur Mangalam
{"title":"Corrigendum to “Spatial variability and directional shifts in postural control in Parkinson’s disease” [Clin. Parkinsonism Relat. Disord. (2024) 10, 100249]","authors":"Damian G. Kelty Stephen ,&nbsp;Ken Kiyono ,&nbsp;Nick Stergiou ,&nbsp;Madhur Mangalam","doi":"10.1016/j.prdoa.2025.100308","DOIUrl":"10.1016/j.prdoa.2025.100308","url":null,"abstract":"","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100308"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144271597","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}
引用次数: 0
Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study 具有GBA突变且无痴呆的帕金森病患者的独特认知表型:一项多中心横断面回顾性研究
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100365
Chiara Longo , Marco Liccari , Ruggero Bacchin , Costanza Papagno , Donatella Ottaviani , Raffaella Di Giacopo , Mauro Catalan , Alina Menichelli , Massimo Marano , Alessio Di Fonzo , Giovanni Duro , Carmela Zizzo , Paolo Manganotti , Bruno Giometto , Maria Chiara Malaguti
{"title":"Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study","authors":"Chiara Longo ,&nbsp;Marco Liccari ,&nbsp;Ruggero Bacchin ,&nbsp;Costanza Papagno ,&nbsp;Donatella Ottaviani ,&nbsp;Raffaella Di Giacopo ,&nbsp;Mauro Catalan ,&nbsp;Alina Menichelli ,&nbsp;Massimo Marano ,&nbsp;Alessio Di Fonzo ,&nbsp;Giovanni Duro ,&nbsp;Carmela Zizzo ,&nbsp;Paolo Manganotti ,&nbsp;Bruno Giometto ,&nbsp;Maria Chiara Malaguti","doi":"10.1016/j.prdoa.2025.100365","DOIUrl":"10.1016/j.prdoa.2025.100365","url":null,"abstract":"<div><h3>Background</h3><div>Cognitive impairment is a major non-motor complication of Parkinson’s disease (PD). GBA mutations are associated with an increased risk, with PD-GBA+ patients typically showing earlier disease onset and faster cognitive decline. However, the specific cognitive phenotype of these patients remains unclear.</div></div><div><h3>Aim</h3><div>To provide a detailed neuropsychological profile of PD-GBA+ patients compared to PD-GBA− patients.</div></div><div><h3>Methods</h3><div>Data from 18 PD-GBA+ and 68 PD-GBA− patients were retrospectively analyzed. All participants underwent comprehensive neurological evaluations of motor and non-motor symptoms, along with a Level II neuropsychological assessment based on the MDS criteria for mild cognitive impairment (MCI). Patients with dementia were excluded.</div></div><div><h3>Results</h3><div>PD-GBA+ patients showed significantly lower cognitive performance, particularly on the RAVLT immediate recall (RAVLT-IR, p &lt; 0.001) and delayed recall (RAVLT-DR, p = 0.002). All PD-GBA+ patients exhibited an amnestic multi-domain MCI phenotype. In contrast, the PD-GBA− group predominantly showed a non-amnestic single-domain MCI, characterized by a dysexecutive profile. Additionally, PD-GBA+ patients had a higher prevalence of freezing of gait (p &lt; 0.001), right-sided motor symptom lateralization (p = 0.011), and REM sleep behavior disorder (p = 0.006).</div></div><div><h3>Conclusions</h3><div>PD-GBA+ patients exhibit a distinctive cognitive phenotype, already evident in the early stages of the disease. These results highlight the added value of Level II neuropsychological assessment in accurately characterizing the clinical phenotype and identifying patients at higher risk of developing dementia. Early cognitive profiling may thus contribute to more targeted monitoring and personalized therapeutic strategies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100365"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571378","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}
引用次数: 0
GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region 来自托斯卡纳地区的252名意大利患者的GBA基因型与帕金森病表型的相关性
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100326
Rodolfo Tonin , Silvia Ramat , Marina Rinaldi , Silvia Falliano , Federica Feo , Francesca Cardona , Camilla Matassini , Guido Mannaioni , Giulia Grigioni , Luca Caremani , Alessandra Govoni , Maria Luisa Della Bona , Giancarlo la Marca , Renzo Guerrini , Amelia Morrone
{"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}
引用次数: 0
The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants GBA1位点最常见的结构变异可能通过一种简单的扩增方法检测到:筛查帕金森病变异的意义
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100338
Roberto Rozenberg , Fabiano Tofoli de Araujo , Hsin Fen Chien , Egberto Reis Barbosa , Lygia V. Pereira
{"title":"The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants","authors":"Roberto Rozenberg ,&nbsp;Fabiano Tofoli de Araujo ,&nbsp;Hsin Fen Chien ,&nbsp;Egberto Reis Barbosa ,&nbsp;Lygia V. Pereira","doi":"10.1016/j.prdoa.2025.100338","DOIUrl":"10.1016/j.prdoa.2025.100338","url":null,"abstract":"<div><h3>Introduction</h3><div>Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because <em>GBA1</em>, the gene involved in GD, has a 96 % homologous pseudogene, <em>GBAP1</em>, at a 1.6kb distance. <em>GBA1</em> gene variants are also the most common molecular alteration among Parkinson’s Disease (PD) patients, even in heterozygosity. The most common GD causing recombinant allele is Rec<em>Nci</em>I (which comprises three single nucleotide variants: p.L483P, p.A495P and p.Val499=). Every time this <em>GBA1</em> recombinant allele is formed by an unequal crossing over event, another allele is formed with a copy number gain, i.e., a triplicate copy where <em>GBA1</em> and <em>GBAP1</em> are preserved, and a third intermediate copy is formed with its sequence starting at <em>GBAP1</em> and then reverting to <em>GBA1</em> after the recombination point (called here TRIP-SV).</div></div><div><h3>Methods</h3><div>Two cohorts were screened for the mid part of the TRIP-SV in PD patients using a specific amplification method. One cohort was formed by 65 early onset PD patients and the other with 100 idiopathic PD patients.</div></div><div><h3>Results</h3><div>In each cohort one patient carrying the TRIP-SV was detected. Sanger sequencing confirmed the expected sequence of the TRIP-SV.</div></div><div><h3>Conclusion</h3><div>Our findings indicate that it is mandatory that groups analyzing the <em>GBA1</em> gene searching for molecular causation of PD investigate the presence of this SV encompassing the <em>GBA1</em>/<em>GBAP1</em> region, which pathogenicity deserves further studies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100338"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143918423","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}
引用次数: 0
Differences between patient- and therapist-rated working alliance and their relationships with physical rehabilitation outcomes in individuals with Parkinson’s disease 帕金森病患者与治疗师评定的工作联盟的差异及其与身体康复结果的关系
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100349
Keita Sue , Kazumi Sakurai , Daiki Usuda , Katsuyuki Kobayashi , Keiko Nakamura , Tomomi Kinoshita , Kimito Momose
{"title":"Differences between patient- and therapist-rated working alliance and their relationships with physical rehabilitation outcomes in individuals with Parkinson’s disease","authors":"Keita Sue ,&nbsp;Kazumi Sakurai ,&nbsp;Daiki Usuda ,&nbsp;Katsuyuki Kobayashi ,&nbsp;Keiko Nakamura ,&nbsp;Tomomi Kinoshita ,&nbsp;Kimito Momose","doi":"10.1016/j.prdoa.2025.100349","DOIUrl":"10.1016/j.prdoa.2025.100349","url":null,"abstract":"<div><h3>Introduction</h3><div>Working Alliance (WA) significantly influences therapeutic success in psychotherapy or rehabilitation for musculoskeletal problems. The perception of WA often differs between patients and therapists. However, little is known about WA in patients with Parkinson’s disease (PD) and its relationship with clinical outcomes following physical rehabilitation. This study aimed to examine the differences in WA between patients and physical therapists in the early phase of a<!--> <!-->physical rehabilitation program and explore their relationships with improvements in gait-related assessments.</div></div><div><h3>Methods</h3><div>Twenty-one patients with PD who participated in the Lee Silverman Voice Treatment BIG program were included. Gait-related assessments, which included gait speed at 10-meter walking test (10-MWT) and timed up &amp; go, were conducted before and after the program. WA was assessed using Working Alliance Inventory (WAI) for both patients and therapists after the completion of the fifth session. The difference between patient- and therapist-rated WAI was analyzed using an unpaired <em>t</em>-test. Correlational analyses between both patient- and therapist-rated WAI scores and improvement rates in gait-related assessments were also performed.</div></div><div><h3>Results</h3><div>Patients rated WAI scores significantly higher than therapists. Only patient-rated WAI scores were correlated with improvement rates in gait speed on 10-MWT, while therapist-rated WAI showed no significant correlation.</div></div><div><h3>Conclusion</h3><div>The results suggest patients with PD perceived WA higher than therapists in the early phase of rehabilitation, and patients’ perceptions may influence functional improvements in rehabilitation.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100349"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069858","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}
引用次数: 0
Movement disorders accompanying lithium intoxication – An evolving clinical presentation and SILENT syndrome 伴随锂中毒的运动障碍-不断发展的临床表现和沉默综合征
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100347
Artur Bystrzyński , Magdalena Kwaśniak-Butowska , Jarosław Sławek
{"title":"Movement disorders accompanying lithium intoxication – An evolving clinical presentation and SILENT syndrome","authors":"Artur Bystrzyński ,&nbsp;Magdalena Kwaśniak-Butowska ,&nbsp;Jarosław Sławek","doi":"10.1016/j.prdoa.2025.100347","DOIUrl":"10.1016/j.prdoa.2025.100347","url":null,"abstract":"<div><div>Lithium carbonate is a known medication for bipolar disorder and requires monitoring due to the central nervous system toxicity. Symptoms mainly include cerebellar dysfunction, although may fluctuate and change over time. We present an evolving clinical picture of a patient with a complex symptoms and prolonged effect of intoxication.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100347"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069859","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}
引用次数: 0
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