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  • 1
    Online-Ressource
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    Swimming is Compromised in Parkinson's Disease Patients
    Wiley ; 2020
    In:  Movement Disorders Vol. 35, No. 2 ( 2020-02), p. 365-369
    Details
    In: Movement Disorders, Wiley, Vol. 35, No. 2 ( 2020-02), p. 365-369
    Kurzfassung: A recent survey reported a high risk of drowning in Parkinson's disease (PD) patients. This study intended to assess PD patients’ swimming ability and explore the disease‐related characteristics that may affect this. Methods A cross‐sectional study was conducted in idiopathic PD patients. The assessment included swimming in 2 different styles and the evaluation of isolated technical gestures. The primary outcome was the frequency of patients who were able to swim. Limb coordination, blockage episodes, and capacity to maintain the body in a horizontal position were also evaluated. Results Thirteen patients were evaluated. Three patients were able to swim according to the predefined definition. The inability to maintain the horizontal position and floatability were the main reasons identified for the decrease in swimming performance. Conclusions Swimming ability is compromised in some PD patients. Further studies are needed to evaluate the global frequency of swimming difficulties in PD patients and their contributing factors. © 2019 International Parkinson and Movement Disorder Society
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v35.2
    DOI: 10.1002/mds.27918
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2020
    ZDB Id: 2041249-6
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  • 2
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    Unsupervised Walking Activity Assessment Reveals COVID ‐19 Impact on Parkinson's Disease Patients
    Wiley ; 2021
    In:  Movement Disorders Vol. 36, No. 3 ( 2021-03), p. 531-532
    Details
    In: Movement Disorders, Wiley, Vol. 36, No. 3 ( 2021-03), p. 531-532
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v36.3
    DOI: 10.1002/mds.28514
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2021
    ZDB Id: 2041249-6
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  • 3
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    Substantia nigra neuromelanin‐MR imaging differentiates essential tremor from Parkinson's disease
    Wiley ; 2015
    In:  Movement Disorders Vol. 30, No. 7 ( 2015-06), p. 953-959
    Details
    In: Movement Disorders, Wiley, Vol. 30, No. 7 ( 2015-06), p. 953-959
    Kurzfassung: Essential tremor (ET) is a very common movement disorder that has no diagnostic markers. Differentiation with Parkinson's disease (PD) can be clinically challenging in some cases, with a high rate of misdiagnosis. Magnetic resonance imaging (MRI) studies have been able to identify neuromelanin changes in the substantia nigra (SN) of PD patients, but they have thus far not been investigated in ET. In this study, we aimed to characterize neuromelanin‐MR signal changes in ET and evaluate its diagnostic accuracy in the differential diagnosis with PD. Methods The inclusion criteria were patients with ET and untreated “de novo” PD patients; in addition, age‐matched controls were enrolled. These were studied with a high‐resolution T1‐weighted MRI sequence at 3.0 Tesla to visualize neuromelanin. The primary outcomes were the area and width of the SN region with high signal. Results A total of 15 ET patients and 12 “de novo” PD patients were evaluated. The area and width of the T1 high signal in the SN region were markedly decreased in the PD group compared with the ET and age‐matched controls, and a greater decrease was seen in the ventrolateral segment. The neuromelanin measures in the ET group, although slightly lower, were not significantly different from the healthy control group. We obtained a sensitivity of 66.7% and a specificity of 93.3% in discriminating ET from early‐stage PD. Conclusions Neuromelanin‐sensitive MRI techniques can discriminate ET from early‐stage tremor‐dominant PD and can be a useful clinical tool in the evaluation of tremor disorders. © 2015 International Parkinson and Movement Disorder Society
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v30.7
    DOI: 10.1002/mds.26182
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2015
    ZDB Id: 2041249-6
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  • 4
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    Reader response: Beware of deep water after subthalamic deep brain stimulation
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Neurology Vol. 95, No. 16 ( 2020-10-20), p. 758.2-759
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 95, No. 16 ( 2020-10-20), p. 758.2-759
    Materialart: Online-Ressource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000010798
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Ovid Technologies (Wolters Kluwer Health)
    Publikationsdatum: 2020
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  • 5
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    An MDS Evidence‐Based Review on Treatments for Huntington's Disease
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 1 ( 2022-01), p. 25-35
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 1 ( 2022-01), p. 25-35
    Kurzfassung: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical manifestations. Its management is challenging, consisting mainly of off‐label treatments. Objectives The International Parkinson and Movement Disorder Society commissioned a task force to review and evaluate the evidence of available therapies for HD gene expansion carriers. Methods We followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Eligible randomized controlled trials were identified via an electronic search of the CENTRAL, MEDLINE, and EMBASE databases. All eligible trials that evaluated one or more of 33 predetermined clinical questions were included. Risk of bias was evaluated using the Cochrane Risk of Bias tool. A framework was adapted to allow for efficacy and safety conclusions to be drawn from the balance between the GRADE level of evidence and the importance of the benefit/harm of the intervention. Results Twenty‐two eligible studies involving 17 interventions were included, providing data to address 8 clinical questions. These data supported a likely effect of deutetrabenazine on motor impairment, chorea, and dystonia and of tetrabenazine on chorea. The data did not support a disease‐modifying effect for premanifest and manifest HD. There was no eligible evidence to support the use of specific treatments for depression, psychosis, irritability, apathy, or suicidality. Similarly, no evidence was eligible to support the use of physiotherapy, occupational therapy, exercise, dietary, or surgical treatments. Conclusions Data for therapeutic interventions in HD are limited and support only the use of VMAT2 inhibitors for specific motor symptoms. © 2021 International Parkinson and Movement Disorder Society
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v37.1
    DOI: 10.1002/mds.28855
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2022
    ZDB Id: 2041249-6
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 6
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    Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
    Wiley ; 2023
    In:  Movement Disorders Vol. 38, No. 4 ( 2023-04), p. 604-615
    Details
    In: Movement Disorders, Wiley, Vol. 38, No. 4 ( 2023-04), p. 604-615
    Kurzfassung: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective We used results from genome‐wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods We used individual data for participants of European ancestry from the Courage‐PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta‐Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross‐phenotypes polygenic risk score (PRS) analyses. Results We confirmed a previously reported positive genetic correlation of PD with melanoma (G corr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (G corr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10] ) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven by rs183211 located in an intron of the NSF gene (17q21.31). Conclusions We show evidence in favor of a contribution of pleiotropic genes to the association between PD and specific cancers. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v38.4
    DOI: 10.1002/mds.29337
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2023
    ZDB Id: 2041249-6
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  • 7
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    Effectiveness of opicapone and switching from entacapone in fluctuating Parkinson disease
    Ovid Technologies (Wolters Kluwer Health) ; 2018
    In:  Neurology Vol. 90, No. 21 ( 2018-05-22), p. e1849-e1857
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 90, No. 21 ( 2018-05-22), p. e1849-e1857
    Kurzfassung: To evaluate the effectiveness of opicapone as add-on to levodopa and the effects of switching from entacapone over 1 year of treatment in patients with fluctuating Parkinson disease. Methods After completion of a placebo- and entacapone-controlled double-blind study of opicapone (5, 25, or 50 mg), 495 patients continued to a 1-year extension phase in which patients were treated with opicapone. Patients began with once-daily opicapone 25 mg for 1 week, followed by individually tailored levodopa and/or opicapone dose adjustments. The primary efficacy variable was the change from baseline in absolute “off” time based on patient diaries. Other outcomes included proportion of responders, scale-based assessments, and standard safety assessments. Results One year of treatment with opicapone reduced “off” time by a half-hour (33.8 minutes) vs the open-label baseline and 〉 2 hours (126.9 minutes) vs the double-blind baseline. Whereas patients who were originally treated with opicapone 50 mg in the double-blind phase maintained their efficacy, switching treatments led to further decreases in “off” time (−64.9, −39.3, −27.5, and −23.0 minutes for switching from placebo, entacapone, and opicapone 5 and 25 mg, respectively). Dyskinesia was the most frequently reported adverse event (14.5%) and was managed by adjustment of dopaminergic therapy. No new safety concerns were observed with long-term opicapone administration. Conclusion Long-term use of opicapone provided sustained efficacy over 1 year. Switching from entacapone to opicapone led to enhanced efficacy under the conditions of the study. Classification of evidence This study provides Class III evidence that for patients with Parkinson disease and end-of-dose motor fluctuations, long-term use (52 weeks) of opicapone is well tolerated and reduces “off” time.
    Materialart: Online-Ressource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000005557
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Ovid Technologies (Wolters Kluwer Health)
    Publikationsdatum: 2018
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  • 8
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    Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease : Evidence From the COURAGE-PD Consortium
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Neurology Vol. 99, No. 7 ( 2022-08-16), p. e698-e710
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 99, No. 7 ( 2022-08-16), p. e698-e710
    Kurzfassung: Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; these have not been independently replicated. This study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. Methods A meta-analysis was performed on PD AAO GWAS of 30 populations of predominantly European ancestry from the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. This was followed by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson Disease Genomics Consortium (IPDGC). Results The COURAGE-PD Consortium included a cohort of 8,535 patients with PD (91.9%: Europeans and 9.1%: East Asians). The average AAO in the COURAGE-PD dataset was 58.9 years (SD = 11.6), with an underrepresentation of females (40.2%). The heritability estimate for AAO in COURAGE-PD was 0.083 (SE = 0.057). None of the loci reached genome-wide significance ( p 〈 5 × 10 −8 ). Nevertheless, the COURAGE-PD dataset confirmed the role of the previously published TMEM175 variant as a genetic determinant of the AAO of PD with Bonferroni-corrected nominal levels of significance ( p 〈 0.025): (rs34311866: β(SE) COURAGE = 0.477(0.203), p COURAGE = 0.0185). The subsequent meta-analysis of COURAGE-PD and IPDGC datasets (N total = 25,950) led to the identification of 2 genome-wide significant association signals on Chr 4, including the previously reported SNCA locus (rs983361: β(SE) COURAGE+IPDGC = 0.720(0.122), p COURAGE+IPDGC = 3.13 × 10 −9 ) and a novel BST1 locus (rs4698412: β(SE) COURAGE+IPDGC = −0.526(0.096), p COURAGE+IPDGC = 4.41 × 10 −8 ). Discussion Our study further refines the genetic architecture of Chr 4 underlying the AAO of the PD phenotype through the identification of BST1 as a novel AAO PD locus. These findings open a new direction for the development of treatments to delay the onset of PD.
    Materialart: Online-Ressource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000200699
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Ovid Technologies (Wolters Kluwer Health)
    Publikationsdatum: 2022
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  • 9
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    The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 9 ( 2022-09), p. 1929-1937
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 9 ( 2022-09), p. 1929-1937
    Kurzfassung: Two studies that examined the interaction between HLA‐DRB1 and smoking in Parkinson's disease (PD) yielded findings in opposite directions. Objective To perform a large‐scale independent replication of the HLA‐DRB1  × smoking interaction. Methods We genotyped 182 single nucleotide polymorphism (SNPs) associated with smoking initiation in 12 424 cases and 9480 controls to perform a Mendelian randomization (MR) analysis in strata defined by HLA‐DRB1 . Results At the amino acid level, a valine at position 11 (V11) in HLA‐DRB1 displayed the strongest association with PD. MR showed an inverse association between genetically predicted smoking initiation and PD only in absence of V11 (odds ratio, 0.74, 95% confidence interval, 0.59–0.93, P Interaction  = 0.028). In silico predictions of the influence of V11 and smoking‐induced modifications of α‐synuclein on binding affinity showed findings consistent with this interaction pattern. Conclusions Despite being one of the most robust findings in PD research, the mechanisms underlying the inverse association between smoking and PD remain unknown. Our findings may help better understand this association. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v37.9
    DOI: 10.1002/mds.29133
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2022
    ZDB Id: 2041249-6
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  • 10
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    Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
    Wiley ; 2023
    In:  Movement Disorders Vol. 38, No. 2 ( 2023-02), p. 286-303
    Details
    In: Movement Disorders, Wiley, Vol. 38, No. 2 ( 2023-02), p. 286-303
    Kurzfassung: As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial‐ready cohorts is limited. Objective The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD‐linked variants; (2) provide harmonized and quality‐controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods We conducted a worldwide, systematic online survey to collect individual‐level data on individuals with PD‐linked variants in SNCA , LRRK2 , VPS35 , PRKN , PINK1 , DJ‐1 , as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2 , 115 SNCA , 23 VPS35 , 429 PRKN , 75 PINK1 , 13 DJ‐1 , and 1224 GBA ) and 703 were unaffected (ie, 328 LRRK2 , 32 SNCA , 3 VPS35 , 1 PRKN , 1 PINK1 , and 338 GBA ). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD‐linked variants; (2) provide harmonized and quality‐controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene‐targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
    Materialart: Online-Ressource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v38.2
    DOI: 10.1002/mds.29288
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2023
    ZDB Id: 2041249-6
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