Neurodegenerative Diseases最新文献

{"title":"Acknowledgement to Reviewers","authors":"","doi":"10.1159/000508622","DOIUrl":"https://doi.org/10.1159/000508622","url":null,"abstract":"","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"19 1","pages":"244 - 244"},"PeriodicalIF":3.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508622","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42045321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"","doi":"10.1159/000509465","DOIUrl":"https://doi.org/10.1159/000509465","url":null,"abstract":"","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44760245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contents Vol.19, 2019","authors":"P. Unschuld, R. Nitsch, Wenzhen Duan, A. Brickman, Jun Hua, E. Konukoglu, M. Goedert, T. Iwatsubo, E. Koo, N. Robakis, Jie Shen, L. Lannfelt, C. Broeckhoven, A. Villringer, K. Blennow, J. Growdon, S. DeKosky","doi":"10.1159/000509067","DOIUrl":"https://doi.org/10.1159/000509067","url":null,"abstract":"","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"19 1","pages":"I - VI"},"PeriodicalIF":3.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48412481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Progressive Supranuclear Palsy Rating Scale with Progressive Supranuclear Palsy Quality of Life Scale.","authors":"Alexander Pantelyat,&nbsp;Lenora Higginbotham,&nbsp;Liana Rosenthal,&nbsp;Diane Lanham,&nbsp;Vanessa Nesspor,&nbsp;Mina AlSalihi,&nbsp;Jee Bang,&nbsp;Jiangxia Wang,&nbsp;Marilyn Albert","doi":"10.1159/000514519","DOIUrl":"https://doi.org/10.1159/000514519","url":null,"abstract":"<p><strong>Introduction: </strong>There is growing interest in using patient-reported outcomes as end points in clinical trials, such as the progressive supranuclear palsy quality of life (PSP-QoL) scale. However, this tool has not been widely validated and its correlation with validated motor scales has not been explored. To evaluate the potential utility of using PSP-QoL as an outcome, it is important to examine its relationship with a standard scale used to evaluate neurologic parameters, such as the PSP Rating Scale.</p><p><strong>Methods: </strong>PSP-QoL and PSP Rating Scale scores were gathered from 60 clinically diagnosed PSP patients, including patients with Richardson syndrome PSP (PSP-RS, n = 43) and those with non-RS PSP variants (n = 17). Linear regression analysis adjusted for age, sex, and disease duration was used to evaluate the cross-sectional relationship between the total and subscale scores of the 2 instruments.</p><p><strong>Results: </strong>Among 60 PSP patients, there was a significant correlation between total PSP-QoL and PSP Rating Scale scores. The physical and mentation subscales of each instrument also demonstrated significant correlations. Comparisons among PSP subtypes indicated that worsening PSP-QoL Total and Physical subscale scores correlated with worsening PSP Rating Scale gait subscale scores more strongly for the non-RS PSP variants than for PSP-RS.</p><p><strong>Discussion: </strong>There is a significant association between the total scores and many of the subscale scores of the PSP-QoL and the PSP Rating Scale. Additionally, the relationship between these measures may differ for PSP-RS and non-RS variants. These findings suggest that the PSP-QoL may be useful in clinical trials as a patient-reported outcome measure. Large prospective multicenter studies utilizing the PSP-QoL are necessary to examine its relationship to disease evolution and changes in the PSP Rating Scale.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 4","pages":"139-146"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000514519","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25536087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Virtual Reality with Motor Imagery Techniques in Patients with Parkinson's Disease: Study Protocol for a Randomized Controlled Trial.","authors":"Muhammad Kashif, Ashfaq Ahmad, Muhammad Ali Mohseni Bandpei, Syed Amir Gillani, Asif Hanif, Humaira Iram","doi":"10.1159/000511916","DOIUrl":"10.1159/000511916","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is one of the most common neurological disorders, of insidious onset, with major motor symptomatology including bradykinesia, rest tremor, rigidity, and postural disturbances. Virtual reality (VR) and motor imagery (MI) are among the more innovative techniques for the rehabilitation of patients with PD which promote motor learning both through explicit and implicit processes. This study is unique in that it will examine the combined effects of VR and MI on motor function, balance and activities of daily living (ADLs) in patients with PD.</p><p><strong>Objective: </strong>The aim of this work is to investigate the effects of VR with MI techniques in addition to routine physical therapy on motor function, balance, and ADLs in patients with PD.</p><p><strong>Methods: </strong>This is a two-armed parallel design, single-blinded (assessor blinded), single-centered, randomized controlled trial, and the study protocol is based on SPIRIT guidelines. Thirty-four patients with PD (Modified Hoehn and Yahr stages I-III) will be randomly allocated with a 1:1 ratio into Group A (control group) and Group B (treatment group). Group A will be given routine physical therapy in 40-min sessions and 20 min of walking and cycling with a short period of rest, every alternate day (3 days per week) for 12 weeks, while for Group B routine physical therapy protocols along with VR and MI will be used in 60-min sessions, every alternate day (3 days per week) for 12 weeks. The primary outcome measures are as follows: (i) the Unified PD Rating Scale (UPDRS; part III), (ii) the Berg Balance Scale (BBS), and the Activities-Specific Balance Confidence Scale (ABC). The secondary outcome measure is the UPDRS (part II). Assessments will be recorded at baseline, the sixth and twelfth weeks of therapy, and 1 month after the discontinuation of therapy. Clinical Study Registration: This randomized controlled prospective study was registered with the Iranian Registry of clinical trials (IRCT20200221046567N1) on April 1, 2020 (https://www.irct.ir/trial/46073).</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 2-3","pages":"90-96"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38735185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Neuropsychiatric Symptoms in Patients with Alzheimer's Disease Using Quantitative EEG and sLORETA.","authors":"Yong S Shim,&nbsp;Hae-Eun Shin","doi":"10.1159/000508130","DOIUrl":"https://doi.org/10.1159/000508130","url":null,"abstract":"<p><strong>Objective: </strong>The electrocortical activities associated with the neuropsychiatric symptoms (NPSs) of Alzheimer's disease (AD) were investigated using frequency-domain electroencephalography (EEG) spectral source analysis, and the potential electrocortical indices identified.</p><p><strong>Materials and methods: </strong>Scalp EEG data were obtained from 51 patients with AD to investigate the presence of four NPS subdomains, hyperactivity, psychosis, affective symptoms, and apathy. EEG power spectra and the standardized low-resolution brain electromagnetic tomography (sLORETA)-localized EEG cortical sources were compared between the groups with and without the four NPS subdomains in eight frequency bands: 1-4, 4-8, 8-10, 10-12, 12-18, 18-20, 20-30, and 30-45 Hz.</p><p><strong>Results: </strong>The power spectral analysis of EEG data showed that AD patients with psychosis had lower values at the α2-band in most areas. In patients with apathy, the θ-to-β power ratio showed a greater activity over the frontal and central regions. The cortical source analysis using sLORETA revealed that patients with psychosis showed decreased values in the α2-band and patients with apathy showed higher δ-values, especially in the right frontal and temporal regions.</p><p><strong>Conclusion: </strong>The results of the present study showed that both classical EEG spectral and EEG source analysis could differentiate patients with and without NPSs, especially psychosis and apathy subdomains. Spectral and sLORETA analyses provided information helpful for a better characterization in patients with NPSs.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 1","pages":"12-19"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508130","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38112349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy.","authors":"Alfried Kohlschütter,&nbsp;Barbara Finckh,&nbsp;Miriam Nickel,&nbsp;Annette Bley,&nbsp;Christoph Hübner","doi":"10.1159/000508080","DOIUrl":"https://doi.org/10.1159/000508080","url":null,"abstract":"<p><strong>Introduction: </strong>Familial isolated deficiency of vitamin E (VED or AVED; MIM #277460) is a progressive neurodegenerative disorder resembling Friedreich ataxia. It is caused by the deficiency of α-tocopherol transfer protein that prevents patients from retaining vitamin E. Oral vitamin E supplements are an accepted treatment, but detailed dosage recommendations and reports on long-term therapeutic results are scarce.</p><p><strong>Methods: </strong>The first patient with VED was discovered at our institution at the age of 12 years and has since been followed with clinical, neurophysiological, neuroradiological, and biochemical investigations to his present age of 52 years. For the last 36 years, the patient has scrupulously followed a custom-made high-dose vitamin E supplement regimen that we devised on the basis of studies of his metabolism of vitamin E.</p><p><strong>Results: </strong>Over the long period of observation, the patient has remained in good general health and has not shown progression of neurological symptoms and signs. His vitamin E plasma levels were always moderately above the normal range. During short interruptions of vitamin E supplements, vitamin E levels fell rapidly, even after years of massive supplementation.</p><p><strong>Discussion: </strong>In this VED patient, a specified and carefully controlled high-dose vitamin E therapy has prevented any recognizable progression of the neurodegenerative process over more than 3 decades of observation.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 1","pages":"35-38"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38118240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Herpesvirus Infections and Risk of Parkinson's Disease.","authors":"Alejandra Camacho-Soto,&nbsp;Irene Faust,&nbsp;Brad A Racette,&nbsp;David B Clifford,&nbsp;Harvey Checkoway,&nbsp;Susan Searles Nielsen","doi":"10.1159/000512874","DOIUrl":"10.1159/000512874","url":null,"abstract":"<p><strong>Introduction: </strong>Herpesviruses might play a role in the pathogenesis of neurodegenerative disorders. We sought to examine a possible association between alpha herpesvirus infections and Parkinson's disease.</p><p><strong>Methods: </strong>We conducted a population-based case-control study of incident Parkinson's disease in 2009 Medicare beneficiaries age 66-90 years (89,790 cases, 118,095 randomly selected comparable controls). We classified beneficiaries with any diagnosis code for \"herpes simplex\" and/or \"herpes zoster\" in the previous 5 years as having had the respective alpha herpesviruses. In beneficiaries with Part D prescription coverage, we also identified those prescribed anti-herpetic medications. We calculated odds ratios (OR) and 95% CI between alpha herpesvirus diagnosis/treatment and Parkinson's disease with logistic regression, with adjustment for age, sex, race/ethnicity, smoking, and use of medical care.</p><p><strong>Results: </strong>Parkinson's disease risk was inversely associated with herpes simplex (OR 0.79, 95% CI 0.74-0.84), herpes zoster (OR 0.88, 95% CI 0.85-0.91), and anti-herpetic medications (OR 0.87, 95% CI 0.80-0.96).</p><p><strong>Conclusion: </strong>Herpesvirus infection or treatment might reduce risk of Parkinson's disease, but future studies will be required to explore whether this inverse association is causal.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 2-3","pages":"97-103"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512874","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38831492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters.","authors":"Shen-Yang Lim,&nbsp;Jia Lun Lim,&nbsp;Azlina Ahmad-Annuar,&nbsp;Katja Lohmann,&nbsp;Ai Huey Tan,&nbsp;Kai Bin Lim,&nbsp;Yi Wen Tay,&nbsp;Yee Lee Shing,&nbsp;Kalai Arasu Muthusamy,&nbsp;Peter Bauer,&nbsp;Arndt Rolfs,&nbsp;Christine Klein","doi":"10.1159/000508131","DOIUrl":"https://doi.org/10.1159/000508131","url":null,"abstract":"<p><p>Pathogenic and risk variants in the LRRK2 gene are among the main genetic contributors to Parkinson's disease (PD) worldwide, and LRRK2-targeted therapies for patients with PARK-LRRK2are now entering clinical trials. However, in contrast to the LRRK2 G2019S mutation commonly found in Caucasians, North-African Arabs, and Ashkenazi Jews, relatively little is known about other causative LRRK2 mutations, and data on genotype-phenotype correlations are largely lacking. This report is from an ongoing multicentre study in which next-generation sequencing-based PD gene panel testing has so far been conducted on 499 PD patients of various ethnicities from Malaysia. We describe 2 sisters of Chinese ancestry with PD who carry the R1441C mutation in LRRK2 (which in Asians has been reported in only 2 Chinese patients previously), and highlight interesting clinical observations made over a decade of close follow-up. We further explored the feasibility of using a brief, expert-administered rating scale (the Clinical Impression of Severity Index; CISI-PD) to capture data on global disease severity in a large (n = 820) unselected cohort of PD patients, including severely disabled individuals typically excluded from research studies. All patients in this study were managed and evaluated by the same PD neurologist, and these data were used to make broad comparisons between the monogenic PD cases versus the overall \"real world\" PD cohort. This report contributes to the scarce literature on R1441C PARK-LRRK2, offering insights into natural history and epidemiological aspects, and provides support for the application of a simple and reliable clinical tool that can improve the inclusion of under-represented patient groups in PD research.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 1","pages":"39-45"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508131","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38080355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Atrophy Subtypes and the ATN Classification Scheme in Alzheimer's Disease.","authors":"Nira Cedres,&nbsp;Urban Ekman,&nbsp;Konstantinos Poulakis,&nbsp;Sara Shams,&nbsp;Lena Cavallin,&nbsp;Sebastian Muehlboeck,&nbsp;Tobias Granberg,&nbsp;Lars-Olof Wahlund,&nbsp;Daniel Ferreira,&nbsp;Eric Westman","doi":"10.1159/000515322","DOIUrl":"https://doi.org/10.1159/000515322","url":null,"abstract":"<p><strong>Introduction: </strong>We investigated the association between atrophy subtypes of Alzheimer's disease (AD), the ATN classification scheme, and key demographic and clinical factors in 2 cohorts with different source characteristics (a highly selective research-oriented cohort, the Alzheimer's Disease Neuroimaging Initiative [ADNI]; and a naturalistic heterogeneous clinically oriented cohort, Karolinska Imaging Dementia Study [KIDS]).</p><p><strong>Methods: </strong>A total of 382 AD patients were included. Factorial analysis of mixed data was used to investigate associations between AD subtypes based on brain atrophy patterns, ATN profiles based on cerebrospinal fluid biomarkers, and age, sex, Mini Mental State Examination (MMSE), cerebrovascular disease (burden of white matter signal abnormalities, WMSAs), and APOE genotype.</p><p><strong>Results: </strong>Older patients with high WMSA burden, belonging to the typical AD subtype and showing A+T+N+ or A+T+N- profiles clustered together and were mainly from ADNI. Younger patients with low WMSA burden, limbic-predominant or minimal atrophy AD subtypes, and A+T-N- or A+T-N+ profiles clustered together and were mainly from KIDS. APOE ε4 carriers more frequently showed the A+T-N- and A+T+N- profiles.</p><p><strong>Conclusions: </strong>Our findings align with the recent framework for biological subtypes of AD: the combination of risk factors, protective factors, and brain pathologies determines belonging of AD patients to distinct subtypes.</p>","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":"20 4","pages":"153-164"},"PeriodicalIF":3.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515322","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25537012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}