Parkinsonism & related disorders最新文献

{"title":"Serum ceruloplasmin oxidase activity: A neglected diagnostic biomarker for Wilson disease","authors":"Yue Yang ,&nbsp;Ting Cheng ,&nbsp;Wenming Yang ,&nbsp;Yu Wang ,&nbsp;Yulong Yang ,&nbsp;Hu Xi ,&nbsp;Qianqian Zhu","doi":"10.1016/j.parkreldis.2024.107105","DOIUrl":"10.1016/j.parkreldis.2024.107105","url":null,"abstract":"<div><h3>Background</h3><p>Low serum ceruloplasmin concentration is considered robust marker for Wilson disease (WD) screening, measuring serum ceruloplasmin oxidase activity might be an even more valuable diagnostic tool, but it has not been sufficiently studied.</p></div><div><h3>Methods</h3><p>All patients who were assessed for serum ceruloplasmin oxidase activity between January 1, 2016, and September 2, 2019, were enrolled in this study. The diagnostic performance of serum ceruloplasmin oxidase activity was analyzed using receiver operating characteristic curve analysis (ROC), Spearman's rank correlation, and Mann-Whitney <em>U</em> test.</p></div><div><h3>Results</h3><p>Serum ceruloplasmin oxidase activity was significantly decreased in WD patients (0.87 U/L, IQR 0.61–1.54). The optimal cut-off of serum ceruloplasmin oxidase activity to identified WD is 7 U/L, with sensitivity and specificity of 97.03 % and 98.19 %, respectively. Furthermore, this study revealed a positive correlation between enzymatic and immunoreactive serum ceruloplasmin tests. As primary diagnostic methods, serum ceruloplasmin levels below the diagnostic cut-offs for either the enzymatic or immunoreactive tests were observed in 818 out of 842 WD patients (97.15 %). Compared with the presence of K-F rings in asymptomatic patients, the accuracy of serum ceruloplasmin tests was significantly higher (56.12 % VS 95.08 %). Moreover, the positive rate of cranial MRI in neurological patients was similar to the tests of serum ceruloplasmin (92.91 % VS 97.40 %). Moreover, 71 patients had ambiguous genetic results, complicating the diagnosis. However, serum ceruloplasmin tests successfully identified 65 out of these 71 patients (91.55 %).</p></div><div><h3>Conclusion</h3><p>Serum ceruloplasmin oxidase activity has excellent performance in diagnosing WD, which should be widely used as preferred test in WD patients.</p></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107105"},"PeriodicalIF":3.1,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1353802024011179/pdfft?md5=74e32bdcb66af3df926afe16d5de8856&pid=1-s2.0-S1353802024011179-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142040805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Onset Parkinsonism: Differential diagnosis and what not to miss.","authors":"Norlinah Mohamed Ibrahim, Chin Hsien Lin","doi":"10.1016/j.parkreldis.2024.107100","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107100","url":null,"abstract":"<p><p>Early Onset Parkinsonism (EOP) refers to parkinsonism occurring before the age of 50 years. The causes are diverse and include secondary and genetic causes. Secondary causes related to medications, inflammatory and infective disorders are mostly treatable and well recognized as they usually present with a relatively more rapid clinical course compared to idiopathic Parkinson's disease. Genetic causes of EOP are more challenging to diagnose especially as more of the non-PARK genes are recognized to present with typical and atypical parkinsonism. Some of the genetic disorders such as Spinocerebellar ataxia 2 (SCA2) and Spinocerebellar ataxia 3 (SCA3) may present with levodopa-responsive parkinsonism, indistinguishable from idiopathic Parkinson's disease. Additionally, some of the genetic disorders, including Wilson's disease and cerebrotendinous xanthomatosis (CTX), are potentially treatable and should not be missed. Due to the advent of next generating sequencing techniques, genetic analyses facilitate early identification and proper treatment of diverse causes of EOP. In this review, we outline the clinical approach of EOP highlighting the key clinical features of some of the non-PARK genetic causes of EOP and related investigations, which could assist in clinical diagnosis. This review also encompass genetic diagnostic approaches, emphasizing the significance of pretest counseling and the principles of bioinformatics analysis strategies.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107100"},"PeriodicalIF":3.1,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study” [Park. Relat. Disord. (2024) 106993]","authors":"A. Cámara ,&nbsp;Y. Compta ,&nbsp;M. Baixauli ,&nbsp;L. Maragall ,&nbsp;A. Pérez-Soriano ,&nbsp;N. Montagut ,&nbsp;M. Ahuir ,&nbsp;E. Ludeña ,&nbsp;L. Peri ,&nbsp;N. Fernández ,&nbsp;S. Villote ,&nbsp;J.C. Lopez de los Reyes ,&nbsp;J. Navarro - Otano ,&nbsp;I. Zaro ,&nbsp;E. Muñoz ,&nbsp;M. Buongiorno ,&nbsp;N. Caballol ,&nbsp;C. Pont-Sunyer ,&nbsp;V. Puente ,&nbsp;D. Giraldo ,&nbsp;M.J. Martí","doi":"10.1016/j.parkreldis.2024.107059","DOIUrl":"10.1016/j.parkreldis.2024.107059","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107059"},"PeriodicalIF":3.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S135380202401071X/pdfft?md5=63a2208795d0323b1787f8a182582acf&pid=1-s2.0-S135380202401071X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141985788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What the trained eye cannot see: Quantitative kinematics and machine learning detect movement deficits in early-stage Parkinson's disease from videos","authors":"Diego L. Guarín ,&nbsp;Joshua K. Wong ,&nbsp;Nikolaus R. McFarland ,&nbsp;Adolfo Ramirez-Zamora ,&nbsp;David E. Vaillancourt","doi":"10.1016/j.parkreldis.2024.107104","DOIUrl":"10.1016/j.parkreldis.2024.107104","url":null,"abstract":"<div><h3>Background</h3><p>Evaluation of disease severity in Parkinson's disease (PD) relies on motor symptoms quantification. However, during early-stage PD, these symptoms are subtle and difficult to quantify by experts, which might result in delayed diagnosis and suboptimal disease management.</p></div><div><h3>Objective</h3><p>To evaluate the use of videos and machine learning (ML) for automatic quantification of motor symptoms in early-stage PD.</p></div><div><h3>Methods</h3><p>We analyzed videos of three movement tasks—Finger Tapping, Hand Movement, and Leg Agility— from 26 aged-matched healthy controls and 31 early-stage PD patients. Utilizing ML algorithms for pose estimation we extracted kinematic features from these videos and trained three classification models based on left and right-side movements, and right/left symmetry. The models were trained to differentiate healthy controls from early-stage PD from videos.</p></div><div><h3>Results</h3><p>Combining left side, right side, and symmetry features resulted in a PD detection accuracy of 79 % from Finger Tap videos, 75 % from Hand Movement videos, 79 % from Leg Agility videos, and 86 % when combining the three tasks using a soft voting approach. In contrast, the classification accuracy varied between 40 % and 72 % when the movement side or symmetry were not considered.</p></div><div><h3>Conclusions</h3><p>Our methodology effectively differentiated between early-stage PD and healthy controls using videos of standardized motor tasks by integrating kinematic analyses of left-side, right-side, and bilateral symmetry movements. These results demonstrate that ML can detect movement deficits in early-stage PD from videos. This technology is easy-to-use, highly scalable, and has the potential to improve the management and quantification of motor symptoms in early-stage PD.</p></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107104"},"PeriodicalIF":3.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141993116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of subjective postural vertical on forward flexed posture in Parkinson's disease","authors":"Makoto Shiraishi ,&nbsp;Kyohei Mikami ,&nbsp;Hikaru Kamo ,&nbsp;Yasuyuki Okuma ,&nbsp;Taiji Tsunemi ,&nbsp;Kenichi Fujimoto ,&nbsp;Tsutomu Kamo ,&nbsp;Yuki Yokota ,&nbsp;Shigeru Nogawa ,&nbsp;Takashi Osada ,&nbsp;Morinobu Seki ,&nbsp;Hiroshi Nagayama ,&nbsp;Taku Hatano ,&nbsp;Hideto Nakajima ,&nbsp;Keisuke Suzuki ,&nbsp;Toshimasa Yamamoto ,&nbsp;Yoshihisa Yamano ,&nbsp;Nobutaka Hattori ,&nbsp;Mutsumi Iijima","doi":"10.1016/j.parkreldis.2024.107102","DOIUrl":"10.1016/j.parkreldis.2024.107102","url":null,"abstract":"<div><h3>Background</h3><div>We developed a novel method to measure the angle of subjective postural vertical (SPV) and showed that the SPV may be related to the exacerbation of the forward flexed posture.</div></div><div><h3>Objectives</h3><div>The present study prospectively tested the effects of the subjective postural vertical on the exacerbation of the forward flexion of trunk (FFT) through long-term observation of Parkinson's disease patients.</div></div><div><h3>Methods</h3><div>Evaluation of the posture included measuring FFT, the angle of lateral flexion of trunk, and the angle at the position that the patient subjectively perceived as the vertical position at a stationary upright position immediately after standing up at the time of initial observation, 6 months later, and 1 year later.</div></div><div><h3>Results</h3><div>The SPV angles worsened significantly at 6 months and 1 year compared to the first measurements (9.3 ± 6.7° vs. 10.8 ± 8.2° and 10.6 ± 7.8°, P &lt; 0.05), and the FFT angles worsened significantly at one year compared to the first measurements (11.1 ± 8.1° vs. 12.2 ± 8.8°, P = 0.004). Furthermore, using a hierarchical multiple regression model, the difference in SPV from the first visit to the first half year was considered a factor contributing to annual FFT change (P = 0.002).</div></div><div><h3>Conclusions</h3><div>This longitudinal study of a large number of cases suggested that changes in SPV may precede changes in FFT.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107102"},"PeriodicalIF":3.1,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safinamide effect on sleep architecture of motor fluctuating Parkinson's disease patients: A polysomnographic rasagiline-controlled study","authors":"Roberta Bovenzi ,&nbsp;Matteo Conti ,&nbsp;Mariangela Pierantozzi ,&nbsp;Greta Testone ,&nbsp;Mariana Fernandes ,&nbsp;Natalia Manfredi ,&nbsp;Tommaso Schirinzi ,&nbsp;Rocco Cerroni ,&nbsp;Nicola Biagio Mercuri ,&nbsp;Alessandro Stefani ,&nbsp;Claudio Liguori","doi":"10.1016/j.parkreldis.2024.107103","DOIUrl":"10.1016/j.parkreldis.2024.107103","url":null,"abstract":"<div><h3>Introduction</h3><p>Sleep problems commonly occur in Parkinson's disease (PD) and significantly affect patients' quality of life. A possible effect on subjective sleep disturbances of monoamine oxidase-B inhibitors (MAOB-Is) has been described.</p></div><div><h3>Methods</h3><p>This prospective, observational, single-centre study involved 45 fluctuating PD patients complaining sleep problems as documented by the PD Sleep Scale -2nd version (PDSS-2 ≥18) starting rasagiline 1 mg/daily or safinamide 100 mg/daily, according to common clinical practice, and maintaining antiparkinsonian therapy unchanged. Polysomnography (PSG), sleep questionnaires (PDSS-2, Epworth Sleepiness Scale - ESS), and motor function were evaluated at baseline (T0) and after 4 months of treatment (T1).</p></div><div><h3>Results</h3><p>Safinamide was prescribed in thirty patients and rasagiline in fifteen patients. Both drugs induced a significant improvement in Movement Disorder Society Unified PD Rating Scale III scores. Patients treated with rasagiline showed a significant increase in stage 1 (N1) Non-REM sleep compared to T0, with no significant effects on sleep scales. Patients treated with safinamide showed a significant increase in stage 3 of Non-REM sleep and sleep efficiency and a reduction in the rate of periodic limb movements, matching a significant reduction in PDSS-2 and ESS scales compared to T0.</p></div><div><h3>Conclusion</h3><p>This study showed that safinamide, in addition to having a significant effect on PD motor symptoms, like the other MAOB-Is, may exert a specific beneficial effect on subjective and objective sleep, probably driven by its dual mechanism of action, which involves both dopaminergic and glutamatergic neurotransmission.</p></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107103"},"PeriodicalIF":3.1,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1353802024011155/pdfft?md5=69df1bf46c68159c27326978cc2b3966&pid=1-s2.0-S1353802024011155-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency","authors":"Shaoyi Zhang ,&nbsp;Dian Chen ,&nbsp;Yifeng Li,&nbsp;Shaochen Qin,&nbsp;Yiwen Wu","doi":"10.1016/j.parkreldis.2024.107093","DOIUrl":"10.1016/j.parkreldis.2024.107093","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107093"},"PeriodicalIF":3.1,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142002327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinitis pigmentosa in DJ1- associated early-onset Parkinson's disease: A phenotypic expansion","authors":"Rohan Mahale,&nbsp;Deepak Chadha,&nbsp;Hansashree Padmanabha,&nbsp;Saraswati Nashi","doi":"10.1016/j.parkreldis.2024.107101","DOIUrl":"10.1016/j.parkreldis.2024.107101","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107101"},"PeriodicalIF":3.1,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-onset asymmetric parkinsonism with atypical features and rapid progression related to a PSEN1 H163R variant","authors":"Elisa Luque-Buzo,&nbsp;Javier Ricardo Pérez-Sánchez,&nbsp;Miguel Gonzalez-Sánchez,&nbsp;Ana Contreras-Chicote,&nbsp;Beatriz De la Casa-Fages,&nbsp;Sergio Secades-García,&nbsp;Francisco Grandas-Pérez","doi":"10.1016/j.parkreldis.2024.107090","DOIUrl":"10.1016/j.parkreldis.2024.107090","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107090"},"PeriodicalIF":3.1,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141978615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep brain stimulation in progressive myoclonus epilepsy with SERPINI1 mutation","authors":"Yue Liu,&nbsp;Naiqing Cai,&nbsp;Feng Xu,&nbsp;Yan Shi,&nbsp;Zhiqiang Wang,&nbsp;Ning Wang,&nbsp;Wanjin Chen,&nbsp;Kang Yang","doi":"10.1016/j.parkreldis.2024.107085","DOIUrl":"10.1016/j.parkreldis.2024.107085","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 107085"},"PeriodicalIF":3.1,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}