Clinical Parkinsonism Related Disorders最新文献

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Integrating tele-palliative care for atypical Parkinsonian disorders: Lessons learned from a pilot program 整合非典型帕金森病的远程姑息治疗:从试点项目中吸取的经验教训
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100352
Mitra Afshari , Kyurim Kang , Ankur A. Butala , Jana Guenther , Rab Razzak , Maya Katz , Nicholas B. Galifianakis , Alexander Pantelyat
{"title":"Integrating tele-palliative care for atypical Parkinsonian disorders: Lessons learned from a pilot program","authors":"Mitra Afshari ,&nbsp;Kyurim Kang ,&nbsp;Ankur A. Butala ,&nbsp;Jana Guenther ,&nbsp;Rab Razzak ,&nbsp;Maya Katz ,&nbsp;Nicholas B. Galifianakis ,&nbsp;Alexander Pantelyat","doi":"10.1016/j.prdoa.2025.100352","DOIUrl":"10.1016/j.prdoa.2025.100352","url":null,"abstract":"<div><h3>Introduction</h3><div>As evidence supporting palliative care (PC) via tele-medicine for neurologic patients increases, it is important to determine the best integration methods across various healthcare settings and patient populations to optimize outcomes. Given the rising demand for PC in chronic neurodegenerative diseases like Atypical Parkinsonian Disorders (APDs), it is imperative to explore different models of PC delivery for feasibility and effectiveness.</div></div><div><h3>Methods</h3><div>Participants with APDs and their care partners at the University of California, San Francisco (UCSF) and Johns Hopkins University (JHU) received 2 virtual telemedicine PC sessions (at baseline and 6 months). Adherence and feasibility-related outcomes were assessed using a satisfaction survey developed by the investigators, using a five-point Likert scale, administered at baseline and 6 months. Additionally, participants’ quality of life (QoL), mood, functional abilities, and care partner burden were assessed at baseline and 6-month follow-up virtual visits.</div></div><div><h3>Results</h3><div>There was a 100 % attendance rate among participants and their care partners at both sites. Satisfaction levels regarding visit convenience were &gt; 78 % for both visits at UCSF and reached 100 % at JHU. No significant differences were observed between baseline and 6-month assessments at both sites in QoL, mood, or caregiver burden. However, there was a significant decrease in functional abilities during the second visit (6 months) at JHU.</div></div><div><h3>Conclusion</h3><div>These results support the integration and expansion of telemedicine PC services to address the evolving needs of individuals with APDs and their care partners, offering a viable solution to enhance access to PC in diverse healthcare settings.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100352"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147261","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
Assessment of social isolation and changes in Parkinson’s disease symptoms during the COVID-19 pandemic: A longitudinal study COVID-19大流行期间社会隔离和帕金森病症状变化的评估:一项纵向研究
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2024.100293
Anish Mehta , Samuel Y.E. Ng , Shermyn X.M. Neo , Nicole S.Y. Chia , Ehsan S. Saffari , Thyagarajan Shivashanmugam , Xinyi Choi , Dede L. Heng , Z.Y. Xu , K.Y. Tay , W.L. Au , E.K. Tan , Louis C.S. Tan
{"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}
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
Identification of inverted U-shaped curve association between serum potassium and prodromal Parkinson’s disease 血清钾与前驱帕金森病关系的倒u型曲线鉴定
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100323
Wen Zhou, Qingqing Xia, Duan Liu, Jun-ying Li, Liang Gong
{"title":"Identification of inverted U-shaped curve association between serum potassium and prodromal Parkinson’s disease","authors":"Wen Zhou,&nbsp;Qingqing Xia,&nbsp;Duan Liu,&nbsp;Jun-ying Li,&nbsp;Liang Gong","doi":"10.1016/j.prdoa.2025.100323","DOIUrl":"10.1016/j.prdoa.2025.100323","url":null,"abstract":"<div><h3>Background</h3><div>The association between serum potassium and prodromal Parkinson’s disease (PPD) remains unclear currently.</div></div><div><h3>Objective</h3><div>The ultimate goal is to gain a deeper understanding of the implications of this association between serum potassium and PPD.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cross-sectional study involving 1035 participants in PPMI cohort. Age, sex, education years, race, body mass index (BMI), calcium, alanine aminotransferase, aspartate aminotransferase, lymphocytes, neutrophils, serum uric acid, serum sodium, serum potassium, creatinine, serum glucose were obtained from all participants. Logistic regression, and smooth curve fitting were utilized to substantiate the research objectives.</div></div><div><h3>Results</h3><div>The overall PPD was 83.4 % (863/1035). Multivariate odds ratio regression adjusted for risk factors demonstrates a 1-unit increment in the serum potassium raises the risk of PPD by 1.82 times, respectively. Smooth splines analysis suggested an inverted U-shaped association between serum potassium and PPD (P nonlinearity &lt; 0.05), with the zenith of risk at 4.479 mmol/L. Further subgroup analysis and sensitivity analyses supported the primary findings and indicated the conclusions are robust.</div></div><div><h3>Conclusions</h3><div>This study highlights the association between serum potassium levels and the risk of incident PPD, independent of confounders. The association between serum potassium and PPD is inverted U-shaped, the threshold value is 4.479 mmol/l.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100323"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143821263","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
Leukoaraiosis does not impact motor outcomes in Parkinson’s patients post deep brain stimulation 脑白质变不影响帕金森病患者脑深部电刺激后的运动结果
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100348
Heather Martin , Rushna Ali , Ashok Sriram , Robert Coleman , Emily Ruether , Hayden Boyce , Morgan L. Maley , Muhib Khan
{"title":"Leukoaraiosis does not impact motor outcomes in Parkinson’s patients post deep brain stimulation","authors":"Heather Martin ,&nbsp;Rushna Ali ,&nbsp;Ashok Sriram ,&nbsp;Robert Coleman ,&nbsp;Emily Ruether ,&nbsp;Hayden Boyce ,&nbsp;Morgan L. Maley ,&nbsp;Muhib Khan","doi":"10.1016/j.prdoa.2025.100348","DOIUrl":"10.1016/j.prdoa.2025.100348","url":null,"abstract":"<div><h3>Objectives</h3><div>We sought to assess the impact of leukoaraiosis (LA) on motor outcomes in Parkinson disease (PD) patients undergoing DBS. We hypothesized that LA is associated with less improvement in motor function in PD patients post-DBS.</div></div><div><h3>Methods</h3><div>We reviewed data of adult patients with PD treated with DBS in a single center between 2012 and 2021. Demographics, risk factors, medications, Hoehn and Yahr scale and Unified Parkinson’s Disease Rating Scale (UPDRS) Motor Score before and after DBS and severity of LA were collected. Simple linear regression (SLR) was used to determine variables of interest to include in the multiple linear regression (MLR). MLR was used to determine independent predictors of motor outcomes (UPDRS) post-DBS including LA as a continuous and dichotomized variable of interest.</div></div><div><h3>Results</h3><div>A total of 90 patients were included in the analysis. Mean age was 65.7 years (±9.7), primarily male (69 %) with a high incidence of young onset PD (29 %), treated with carbidopa/levodopa combination (98 %) and with moderate severity of disease (Hoehn and Yahr Stage 2.0 [2.0, 2.5]). Moderate to severe leukoaraiosis was noted in 26 (32.5 %) patients. SLR revealed age, diabetes and disease severity as predictors of post-DBS motor UPDRS. In adjusted analysis, LA was not an independent predictor of motor outcomes post-DBS either as continuous (β = 0.20, p = 0.77) or dichotomized (β = −0.64; p = 0.77) variable.</div></div><div><h3>Conclusion</h3><div>In conclusion, our data suggests that motor outcomes in Parkinson’s disease patients undergoing deep brain stimulation (DBS) are not impacted by pre-existing leukoaraiosis. Further studies are needed to validate our findings.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100348"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143948216","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
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
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
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions 新的NOTCH3突变c.1564t>a (p.Cys522Ser)表现为早发性帕金森病和白质病变。
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100297
Nicola Rifino , Silvia Baratta , Esteban Zacarias , Isabella Canavero , Benedetta Storti , Mario Stanziano , Emanuela Maderna , Gianluca Marucci , Franco Taroni , Anna Bersano
{"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}
引用次数: 0
Efficacy of virtual reality-based cognitive behavioral group therapy in enhancing emotional well-being and quality of life in Parkinson’s disease: A randomized controlled trial 基于虚拟现实的认知行为团体治疗在增强帕金森病患者情绪健康和生活质量方面的疗效:一项随机对照试验
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100316
Gooya Tayyebi , Farnaz Asadiof , Bahar Hashempour , Mohsen Lotfi , Mostafa Taheri , Mahdi Naeim
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