Publications by authors named "Zuzana Gdovinova"

69 Publications

Associations between neurofilament light chain levels, disease activity and brain atrophy in progressive multiple sclerosis.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2021 Jun 1. Epub 2021 Jun 1.

AXON Neuroscience R&D Services SE, Bratislava, Slovak Republic.

Background: Neurofilament light chain is a promising biomarker of disease activity and treatment response in relapsing-remitting multiple sclerosis (MS). Its role in progressive MS is less clear.

Aim: The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept NEDA-3 (No Evident Disease Activity), and brain volumetry, in a cohort of patients with the progressive disease form (PMS).

Methods: Levels of pNfL (SIMOA technology) were examined in 52 PMS patients and analysed in relationship to NEDA-3 status and annual brain volume loss (BVL) during the last 12 months. The statistical model was developed using logistic regression analysis, including demographic, clinical and magnetic resonance imaging (MRI) data as independent variables. Dependent variables were NEDA-3 status and BVL.

Results: The mean age of the study participants (n=52, 50% females) was 45.85 (SD, 9.82) and the median disability score was 5.0 (IQR: 5.0-5.5). ROC analysis showed that pNfL predicts NEDA-3 (the sensitivity and specificity of the model were 77.8% and 87.6%, respectively, P<0.001) and abnormal BVL (the sensitivity and specificity were 96.6% and 68.2%, respectively, P<0.001).

Conclusions: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA-3 status, including brain MRI-volumetry, in patients with the progressive form of MS.
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http://dx.doi.org/10.5507/bp.2021.034DOI Listing
June 2021

Neurofilament Light Chain Levels Are Associated with Disease Activity Determined by No Evident Disease Activity in Multiple Sclerosis Patients.

Eur Neurol 2021 May 25:1-8. Epub 2021 May 25.

AXON Neuroscience R&D Services SE, Bratislava, Slovakia.

Introduction: There is a need for blood biomarkers of disease activity in multiple sclerosis (MS). The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept three-domain no evident disease activity (NEDA-3).

Methods: Levels of pNfL (SIMOA) were examined in 159 MS patients and analyzed in relationship to NEDA-3 status (absence of relapse, disability score worsening, and brain magnetic resonance activity) during the last 12 months. The accuracy of the proposed model was evaluated by calculating the area under the receiver operating characteristics (ROC) curve. From the pNfL cutoff, we evaluated the NEDA-NfL status (no relapse, no Expanded Disability Status Scale [EDSS] worsening, and pNfL below the cutoff value).

Results: Levels of pNfL were significantly higher in MS patients than in healthy controls (p <  0.001). From a total of 159 patients, 80 (50.3%) achieved NEDA-3 status, while 79 (49.7%) patients showed evident disease activity (EDA) status. pNfL were significantly lower in the NEDA-3 group than in the EDA group (pNfL mean 7.06 pg/mL [standard deviation (SD) 2.37] vs. pNfL mean 13.04 pg/mL [SD 7.07]) (p < 0.001). ROC analysis showed that pNfL predicts NEDA-3 status (sensitivity and specificity were 80.5 and 72.7%, respectively, p < 0.001), and NEDA-NfL predicts NEDA-3 status (sensitivity and specificity were 97.1 and 82.9%, respectively, p < 0.001).

Conclusion: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA status in patients with MS and could be an alternative to brain magnetic resonance investigation.
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http://dx.doi.org/10.1159/000515806DOI Listing
May 2021

Comparison in detection of prodromal Parkinson's disease patients using original and updated MDS research criteria in two independent cohorts.

Parkinsonism Relat Disord 2021 Jun 30;87:48-55. Epub 2021 Apr 30.

Department of Neurology, P. J. Safarik University, Trieda SNP 1, 04011, Kosice, Slovak Republic; Department of Neurology, University Hospital L. Pasteur, Rastislavova 43, 04190, Kosice, Slovak Republic.

Introduction: MDS research criteria for prodromal Parkinson's disease (pPD) were published in 2015 and updated in 2019. We aimed to determine the difference in pPD patient detection rates in two cohorts recruited via gastrointestinal symptoms (PARCAS study) and the presence of a probable REM sleep behaviour disorder (PDBIOM study) using the original and updated criteria.

Methods: We evaluated all risk and prodromal markers, except genetic testing, plasma urate and physical inactivity, in both cohorts and DaT scan, diabetes mellitus type II and cognitive deficit in the PARCAS cohort. Thresholds of 50% probability for possible pPD and 80% for probable pPD were used.

Results: PPD status as identified by the original/updated criteria showed differences for probable pPD (n = 8/9; original/updated criteria) and possible pPD (n = 9/13) in the PARCAS cohort (total n = 158), as well as for probable pPD (n = 19/21) and possible pPD (n = 6/3) in the PDBIOM cohort (total n = 48). A high concordance rate was found between the two criteria sets (p < 0.001 for all groups).

Conclusion: All probable pPD cases remained in the same category after evaluation with both criteria; three possible pPD cases based on the original criteria exceeded the threshold for probable pPD based on the updated criteria, and five possible new pPD cases were detected, with only one shift in the opposite direction. The updated MDS pPD research criteria tend to identify more patients as positive, yet their accuracy needs to be determined in prospective studies.
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http://dx.doi.org/10.1016/j.parkreldis.2021.04.028DOI Listing
June 2021

Intravenous thrombolysis for stroke in pregnancy should be administered if the benefit outweighs the risk: A case report and recommended diagnostic workup.

Womens Health (Lond) 2021 Jan-Dec;17:1745506521999495

Department of Neurology, Faculty of Medicine, P.J. Šafarik University and University Hospital L. Pasteur, Košice, Slovakia.

Introduction: There is an ongoing debate about the use of recombinant tissue plasminogen activator in acute stroke during pregnancy. The aim of our case report is to present that even in a small stroke centre intravenous thrombolysis can be used on a pregnant woman if the benefit outweighs the risk and to summarize the diagnostic workup in a pregnant woman with stroke.

Case Report: Our case describes a 31-year-old woman presenting in her third trimester with a sudden onset of slurred speech, severe right hemiparesis, facial nerve central palsy, eyes deviation to the left, right side hemianopia, hemisensory loss, psychomotor agitation and pain in the right lower limb. She was successfully treated with recombinant tissue plasminogen activator with almost complete recovery (NIHSS 1 after 10 days), and 23 days after intravenous thrombolysis, she delivered in the 37th week a healthy male infant. The first documented successful outcome from thrombolysis for this condition in Slovakia supports the notion of giving intravenous recombinant tissue plasminogen activator to pregnant patients with disabling ischaemic stroke who meet the criteria for thrombolysis.

Discussion: At the end of case study, a recommended diagnostic workup for acute treatment of stroke in pregnant women is presented.
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http://dx.doi.org/10.1177/1745506521999495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958154PMC
March 2021

Plasma neurofilament light chain levels are predictors of disease activity in multiple sclerosis as measured by four-domain NEDA status, including brain volume loss.

Mult Scler 2021 Feb 26:1352458521998039. Epub 2021 Feb 26.

Pro Magnet, Košice, Slovak Republic.

Background: The research is focused on sensitive biomarkers in multiple sclerosis (MS).

Objective: The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept NEDA (no evident disease activity), including brain volumetry, in a cohort of MS patients treated with disease-modifying treatment (DMT).

Methods: Levels of pNfL (Single Molecule Array (SIMOA) technology) were examined in 95 RRMS (relapsing-remitting multiple sclerosis) patients and analyzed in relationship to NEDA-3 status and NEDA-BVL (brain volume loss; NEDA-3 extended by brain volumetry) during the last 12 months. The statistical model was developed using logistic regression analysis, including the independent variables: demographic, clinical, and magnetic resonance imaging (MRI) data. Dependent variables were NEDA-3 and NEDA-BVL status.

Results: The mean age of the study participants ( = 95, 62% females) was 37.85 years (standard deviation (SD) = 9.62) and the median disability score was 3.5 (2.5-4.1). Receiver operating characteristics (ROC) analysis showed that pNfL predicts NEDA-3 (the sensitivity and specificity of the model were 92% and 78%, respectively,  < 0.001) and NEDA-BVL status (the sensitivity and specificity were 80% and 65%, respectively,  < 0.001).

Conclusion: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA-BVL status, including brain MRI-volumetry in patients with RRMS.
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http://dx.doi.org/10.1177/1352458521998039DOI Listing
February 2021

Predictors of outcome events and 6-year mortality after carotid endarterectomy and carotid stenting in patients with carotid artery stenosis.

Neurol Neurochir Pol 2021 26;55(1):67-73. Epub 2020 Nov 26.

Department of Neurology Pavol Jozef Safarik University and L. Pasteur University Hospital, Trieda SNP 1, 04011 Košice, Slovakia.

Aim: The aim of our study was to evaluate the results of CEA and CAS in patients with carotid artery stenosis, and their effect on long-term mortality and morbidity, as well as to identify predictors of long-term mortality in a single-centre observational study.

Clinical Rationale: While data on short-term morbidity and mortality after carotid endarterectomy (CEA) and carotid stenting (CAS) is robust, there is only a limited amount of literature on long-term mortality and its predictors five years-plus post these procedures.

Material And Methods: Consecutive patients with symptomatic and asymptomatic internal carotid artery stenosis treated with CEA or CAS in a single centre in eastern Slovakia between 2012 and 2014 were included. We recorded basic sociodemographic data, the presence of co-morbidities and periprocedural complications. Clinical and sonographic follow-up was performed three and 12 months after the procedures. Patient survival data and any stroke data was obtained at the end of a six-year follow-up.

Results: We included 259 patients after CEA (mean age 67.4 ± 8.5, 64.5% men) and 321 after CAS (mean age 66.9 ± 8.4, 73.5% men). We did not identify a statistically significant difference in short-term or long-term mortality, survival times, or the presence of short-term or long-term complications between the CEA and CAS groups. Predictors of long-term mortality included age and diabetes mellitus in both cohorts. Repeated interventions were related to increased mortality only in the CAS cohort.

Conclusions: The results of our study show that long-term mortality does not differ between CEA and CAS.
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http://dx.doi.org/10.5603/PJNNS.a2020.0089DOI Listing
March 2021

The impact of the COVID-19 outbreak on acute stroke care in Slovakia: Data from across the country.

Eur J Neurol 2020 Nov 13. Epub 2020 Nov 13.

National Health Information Center, Bratislava, Slovakia.

Background And Purpose: A few studies using data from regional databases have recently pointed to a decreased number of patients with stroke. The aim of the present study was to describe country-level data (the number of patients with stroke, the proportion of patients with acute stroke and transient ischemic attack (TIA), the proportion of patients treated with intravenous thrombolysis [IVT] or mechanical thrombectomy [MT], the door-to-needle times [DNT], and the onset-to-needle time [ONT]) during the COVID-19 pandemic in Slovakia.

Methods: The study examined data from the stroke register at the National Health Information Centre. Data from three time periods (March to April 2020; March to April 2019; January to February 2020) were compared using an independent samples t-test and the Wilcoxon-Mann-Whitney two-sample rank-sum test.

Results: The number of stroke patients admitted to hospitals in Slovakia during the COVID-19 period showed a decrease (1673 vs. 2328 in period 2 and 2155 in period 3). The proportions of patients with TIA remained the same in periods 1 and 2 (9.7% vs. 11.7%) and in periods 1 and 3 (9.7 vs. 11.8%). The percentage of patients treated with IVT during the pandemic (22.4%) did not differ from period 2 (20.0%) or period 3 (21.4%). No difference was found in the rate of MT between the COVID-19 period (10.2%) and the same period in 2019 (10.7%) and in January to February 2020 (13.1%). The median DNT remained unchanged in periods 1 (30 min), 2 (35 min) and 3 (30 min), and no differences were found in median ONT in periods 1 (130 min), 2 (130 min) and 3 (140 min).

Conclusion: We found a decreased number of stroke patients during the COVID-19 outbreak in Slovakia, but no evidence of a change in the quality of acute stroke care.
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http://dx.doi.org/10.1111/ene.14640DOI Listing
November 2020

Monogenic variants in dystonia: an exome-wide sequencing study.

Lancet Neurol 2020 11;19(11):908-918

Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.

Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia.

Methods: For this exome-wide sequencing study, study participants were identified at 33 movement-disorder and neuropaediatric specialty centres in Austria, Czech Republic, France, Germany, Poland, Slovakia, and Switzerland. Each individual with dystonia was diagnosed in accordance with the dystonia consensus definition. Index cases were eligible for this study if they had no previous genetic diagnosis and no indication of an acquired cause of their illness. The second criterion was not applied to a subset of participants with a working clinical diagnosis of dystonic cerebral palsy. Genomic DNA was extracted from blood of participants and whole-exome sequenced. To find causative variants in known disorder-associated genes, all variants were filtered, and unreported variants were classified according to American College of Medical Genetics and Genomics guidelines. All considered variants were reviewed in expert round-table sessions to validate their clinical significance. Variants that survived filtering and interpretation procedures were defined as diagnostic variants. In the cases that went undiagnosed, candidate dystonia-causing genes were prioritised in a stepwise workflow.

Findings: We sequenced the exomes of 764 individuals with dystonia and 346 healthy parents who were recruited between June 1, 2015, and July 31, 2019. We identified causative or probable causative variants in 135 (19%) of 728 families, involving 78 distinct monogenic disorders. We observed a larger proportion of individuals with diagnostic variants in those with dystonia (either isolated or combined) with coexisting non-movement disorder-related neurological symptoms (100 [45%] of 222; excepting cases with evidence of perinatal brain injury) than in those with combined (19 [19%] of 98) or isolated (16 [4%] of 388) dystonia. Across all categories of dystonia, 104 (65%) of the 160 detected variants affected genes which are associated with neurodevelopmental disorders. We found diagnostic variants in 11 genes not previously linked to dystonia, and propose a predictive clinical score that could guide the implementation of exome sequencing in routine diagnostics. In cases without perinatal sentinel events, genomic alterations contributed substantively to the diagnosis of dystonic cerebral palsy. In 15 families, we delineated 12 candidate genes. These include IMPDH2, encoding a key purine biosynthetic enzyme, for which robust evidence existed for its involvement in a neurodevelopmental disorder with dystonia. We identified six variants in IMPDH2, collected from four independent cohorts, that were predicted to be deleterious de-novo variants and expected to result in deregulation of purine metabolism.

Interpretation: In this study, we have determined the role of monogenic variants across the range of dystonic disorders, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations.

Funding: Else Kröner-Fresenius-Stiftung, Technische Universität München, Helmholtz Zentrum München, Medizinische Universität Innsbruck, Charles University in Prague, Czech Ministry of Education, the Slovak Grant and Development Agency, the Slovak Research and Grant Agency.
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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

Cognitive Event-Related Potentials-The P300 Wave Is a Prognostic Factor of Long-Term Disability Progression in Patients With Multiple Sclerosis.

J Clin Neurophysiol 2020 Oct 5. Epub 2020 Oct 5.

Departments of Neurology.

Purpose: Multiple sclerosis (MS) is a chronic disorder with a variable course. The aim of our study was to find out whether cognitive event-related potentials are prognostic for patient disability at the 15-year follow-up.

Methods: In the observed cohort of patients with MS, we examined the event-related potentials at baseline (2003). Functional status (Expanded Disability Status Scale score) was then assessed 15 years later, and the prognostic model was developed using binary logistic regression analysis. The independent variables included demographic (age, sex, and education), clinical (disability in 2003), radiologic (MRI lesion load), and event-related potentials parameters. The prognostic accuracy of the proposed model was evaluated by calculating the area under the receiver-operating characteristics curve.

Results: The study sample consisted of 85 patients with MS. The mean age was 35.5 (SD, 11.2) years, and the median disability score was 3.0 (1-7) in 2003 and 5.0 (1.5-9.5) in 2018. The significant prognostic factors of poor Expanded Disability Status Scale are higher baseline Expanded Disability Status Scale, longer MS duration, and prolonged P300 latency. The sensitivity and specificity of the cutoff at 5.0 for the disability score were 94% and 89%, respectively, with the area under the receiver-operating characteristics curve 0.94 (95% confidence interval, 0.889-0.984; P < 0.001).

Conclusions: The results show that out of event-related potentials, the P300 wave latency is a prognostic of long-term disability progression in patients with MS.
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http://dx.doi.org/10.1097/WNP.0000000000000788DOI Listing
October 2020

Enhancing and accelerating stroke treatment in Eastern European region: Methods and achievement of the ESO EAST program.

Eur Stroke J 2020 Jun 20;5(2):204-212. Epub 2020 Jan 20.

Department of Neurology, Med Campus III, Kepler University Hospital, Linz, Austria.

Introduction: Despite the availability of prevention and therapies of stroke, their implementation in clinical practice, even of low-cost ones, remains poor. In 2015, the European Stroke Organisation (ESO) initiated the ESO Enhancing and Accelerating Stroke Treatment (EAST) program, which aims to improve stroke care quality, primarily in Eastern Europe. Here, we describe its methods and milestones.

Patients And Methods: The ESO EAST program is using an implementation strategy based on a 'detecting-understanding-reducing disparities' conceptual framework: stroke care quality is first measured (after developing a platform for data collection), gaps are identified in the current service delivery, and ultimately feedback is provided to participating hospitals, followed by the application of interventions to reduce disparities. The ESO EAST program is carried out by establishing a stroke quality registry, stroke management infrastructure, and creating education and training opportunities for healthcare professionals.

Results: Program management and leadership infrastructure has been established in 19 countries (Country Representatives in 22 countries, National Steering Committee in 19 countries). A software platform for data collection and analysis: gistry of troke Care uality was developed, and launched in 2016, and has been used to collect data from over 90,000 patients from >750 hospitals and 56 countries between September 2016 and May 2019. Training in thrombolysis, nursing and research skills has been initiated.

Discussion: ESO EAST is the first pan-Eastern European (and beyond) multifaceted quality improvement intervention putting evidence-informed policies into practice. Continuous monitoring of stroke care quality allows hospital-to-hospital and country-to-country benchmarking and identification of the gaps and needs in health care.
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http://dx.doi.org/10.1177/2396987319897156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313365PMC
June 2020

SiPP (Stroke in Pregnancy and Postpartum): A prospective, observational, international, multicentre study on pathophysiological mechanisms, clinical profile, management and outcome of cerebrovascular diseases in pregnant and postpartum women.

Eur Stroke J 2020 Jun 6;5(2):193-203. Epub 2019 Dec 6.

Department of Neurosciences (Neurology), Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.

Rationale: Cerebrovascular diseases associated with pregnancy and postpartum period are uncommon; however, they can have an important impact on health of both women and foetus or newborn.

Aims: To evaluate the frequency, characteristics and management of cerebrovascular events in pregnant/postpartum women, to clarify pathophysiological mechanisms underlying the occurrence of these events including biomolecular aspects, and to assess the short- and long-term cerebrovascular and global cardiovascular outcome of these patients, their predictors and infant outcome.

Methods And Design: This is an observational, prospective, multicentre, international case-control study. The study will include patients with cerebrovascular events during pregnancy and/or within six months after delivery. For each included case, two controls will be prospectively recruited: one pregnant or puerperal subject without any history of cerebrovascular event and one non-pregnant or non-puerperal subject with a recent cerebrovascular event. All controls will be matched by age, ethnicity and type of cerebrovascular event with their assigned cases. The pregnant controls will be matched also by pregnancy weeks/trimester. Follow-up will last 24 months for the mother and 12 months for the infant.

Summary: To better understand causes and outcomes of uncommon conditions like pregnancy/postpartum-related cerebrovascular events, the development of multisite, multidisciplinary registry-based studies, such as the Stroke in Pregnancy and Postpartum study, is needed in order to collect an adequate number of patients, draw reliable conclusions and give definite recommendations on their management.
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http://dx.doi.org/10.1177/2396987319893512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313370PMC
June 2020

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Parkinsonism Relat Disord 2020 08 29;77:70-75. Epub 2020 Jun 29.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

Introduction: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. The genotypic and phenotypic spectrum of MAG-associated disease awaits further elucidation.

Methods: Four unrelated patients with complex neurologic conditions underwent whole-exome sequencing within research or diagnostic settings. Following determination of the underlying genetic defects, in-depth phenotyping and literature review were performed.

Results: In all case subjects, we detected ultra-rare homozygous or compound heterozygous variants in MAG. The observed nonsense (c.693C > A [p.Tyr231*], c.980G > A [p.Trp327*], c.1126C > T [p.Gln376*], and 1522C > T [p.Arg508*]) and frameshift (c.517_521dupAGCTG [p.Trp174*]) alleles were predicted to result in premature termination of protein translation. Affected patients presented with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms. Cerebellar signs, nystagmus, and pyramidal tract dysfunction emerged as unifying features in the majority of MAG-mutated individuals identified to date.

Conclusions: Our study is the first to describe biallelic null variants in MAG, confirming that loss of myelin-associated glycoprotein causes severe infancy-onset disease with central and peripheral nervous system involvement.
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http://dx.doi.org/10.1016/j.parkreldis.2020.06.027DOI Listing
August 2020

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.

Acta Neurol Scand 2020 Dec 13;142(6):613-622. Epub 2020 Jul 13.

Department of Community and Occupational Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Objectives: Non-motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on health-related quality of life (HRQoL). However, the prevalence of NMS and their association with dystonia are still unclear. The aim of our study was to assess the prevalence of depression, anxiety, fatigue, apathy, pain, sleep problems, and excessive daytime sleepiness (EDS) in CD using different evaluation approaches and to explore their association with HRQoL relative to that of motor symptoms.

Materials And Methods: We enrolled 102 Slovak patients with CD. The severity of both motor and non-motor symptoms was assessed using validated scales. HRQoL was determined by the 36-item Short Form Health Survey (SF-36). Association of NMS with poor HRQoL was assessed using multiple regressions.

Results: The most frequent NMS in our sample were sleep impairment (67.3%), anxiety (65.5%), general and physical fatigue (57.5% and 52.9%, respectively), depression (47.1%), mental fatigue (31.4%), apathy (30.4%), reduced activity (29.4%), EDS (20.2%), and reduced motivation (18.6%). Univariate analysis showed that NMS, but not motor symptoms, were significantly linked to poor HRQoL, with EDS being most commonly associated with poor HRQoL, followed by disrupted sleep, depression, and fatigue.

Conclusions: The prevalence of NMS among patients with CD is high, and some NMS are strongly associated with poor HRQoL, while motor impairment was not associated with the severity of NMS or poor HRQoL. Actively diagnosing and treating NMS should therefore be a routine part of the clinical management of patients with CD.
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http://dx.doi.org/10.1111/ane.13304DOI Listing
December 2020

Which clinical and neuropsychological factors are responsible for cognitive impairment in patients with epilepsy?

Int J Public Health 2020 Jul 12;65(6):947-956. Epub 2020 Jun 12.

Department of Neurology, Faculty of Medicine, P. J. Safarik University, Trieda SNP 1, 040 11, Kosice, Slovakia.

Objectives: The study aimed to assess the effect of demographic and clinical features of epilepsy, anxiety, depressed mood, sleep, and quality of life on the prediction of cognitive decline in patients with epilepsy.

Methods: Two hundred and six consecutive patients with epilepsy (age 41.8 ± 15.6 years, mean, SD) out of 279, were included in this cross-sectional study. We used simple linear regression to calculate the results.

Results: Objective cognitive status was predicted by anxiety and depression mood changes (Beck Anxiety Inventory (BAI), p = 0.03, Beck Depression Inventory (BDI), p = 0.005), language subdomain of Quality of Life Inventory in Epilepsy-89 (QOLIE-89) (p = 0.003), and total QOLIE-89 (p = 0.001). No significance was shown in demographic and clinical features of epilepsy (gender, age at onset, epilepsy duration, type, etiology of epilepsy, and antiepileptic treatment), except frequency of generalized epileptic seizures (p = 0.03), which also served as an independent predictor of anxiety (BAI) and depression (BDI).

Conclusions: Our findings point at the role of mood changes in the cognitive status of patients with epilepsy, which should be used as an essential therapeutic target apart of seizure control.
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http://dx.doi.org/10.1007/s00038-020-01401-7DOI Listing
July 2020

Dabigatran initiation in patients with non-valvular AF and first acute ischaemic stroke: a retrospective observational study from the SITS registry.

BMJ Open 2020 05 19;10(5):e037234. Epub 2020 May 19.

Department of Neurology and Department of Clinical Neuroscience, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden

Background And Objective: The optimal timing for initiation of dabigatran after acute ischaemic stroke (AIS) is not established. We aimed to evaluate initiation timing and clinical outcomes of dabigatran in AIS patients with non-valvular atrial fibrillation (NVAF).

Design: Retrospective study based on prospectively collected data in SITS (Safe Implementation of Treatment in Stroke) Thrombolysis and Thrombectomy Registry from July 2014 to July 2018.

Participants: European NVAF patients (≥18 years) hospitalised after first-ever ischaemic stroke.

Setting: A multinational, observational monitoring register.

Intervention: Dabigatran initiation within 3 months after the ischaemic stroke.

Primary And Secondary Outcomes: The primary outcome was time from first-ever ischaemic stroke (index event) to dabigatran initiation. Additional outcomes included physicians' reasons for delaying dabigatran initiation beyond acute hospital discharge and outcomes within 3 months of index event.

Methods: We identified patients with NVAF who received dabigatran within 3 months of the index event. We performed descriptive statistics for baseline and demographic data and clinical outcomes after dabigatran initiation.

Results: In total, 1489 patients with NVAF received dabigatran after AIS treated with thrombolysis and/or thrombectomy. Of these, 1240 had available initiation time. At baseline, median age was 75 years; 53% of patients were women, 15% were receiving an oral anticoagulant, 29% acetylsalicylic acid and 4% clopidogrel. Most patients (82%) initiated dabigatran within 14 days after the index event. Patients initiating earlier had lower stroke severity from median NIHSS 8 (IQR 6-13) if initiated within 7 days to NIHSS 15 (9-19) if initiated between 28 days and 3 months. Most common reasons for delaying initiation were haemorrhagic transformation or intracranial haemorrhage, stroke severity and infarct size. Few thrombotic/haemorrhagic events occurred within 3 months after the index event (20 of 926 patients, 2.2% with the available data).

Conclusions: Our findings, together with previous observational studies, indicate that dabigatran initiated within the first days after an AIS is safe in patients treated with intravenous thrombolysis, endovascular thrombectomy or both.

Trial Registration Number: SITS Thrombolysis and Thrombectomy Registry (NCT03258645).
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http://dx.doi.org/10.1136/bmjopen-2020-037234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247395PMC
May 2020

Antithrombotic Treatment of Embolic Stroke of Undetermined Source: RE-SPECT ESUS Elderly and Renally Impaired Subgroups.

Stroke 2020 06 14;51(6):1758-1765. Epub 2020 May 14.

Department of Neurology, Evangelisches Klinikum Bethel, Bielefeld, Germany (W.-R.S.).

Background and Purpose- The RE-SPECT ESUS trial (Randomized, Double-Blind, Evaluation in Secondary Stroke Prevention Comparing the Efficacy and Safety of the Oral Thrombin Inhibitor Dabigatran Etexilate Versus Acetylsalicylic Acid in Patients With Embolic Stroke of Undetermined Source) tested the hypothesis that dabigatran would be superior to aspirin for the prevention of recurrent stroke in patients with embolic stroke of undetermined source. This exploratory subgroup analysis investigates the impact of age, renal function (both predefined), and dabigatran dose (post hoc) on the rates of recurrent stroke and major bleeding. Methods- RE-SPECT ESUS was a multicenter, randomized, double-blind trial of dabigatran 150 or 110 mg (for patients aged ≥75 years and/or with creatinine clearance 30 to <50 mL/minute) twice daily compared with aspirin 100 mg once daily. The primary outcome was recurrent stroke. Results- The trial, which enrolled 5390 patients from December 2014 to January 2018, did not demonstrate superiority of dabigatran versus aspirin for prevention of recurrent stroke in patients with embolic stroke of undetermined source. However, among the population qualifying for the lower dabigatran dose, the rate of recurrent stroke was reduced with dabigatran versus aspirin (7.4% versus 13.0%; hazard ratio, 0.57 [95% CI, 0.39-0.82]; interaction =0.01). This was driven mainly by the subgroup aged ≥75 years (7.8% versus 12.4%; hazard ratio, 0.63 [95% CI, 0.43-0.94]; interaction =0.10). Stroke rates tended to be lower with dabigatran versus aspirin with declining renal function. Risks for major bleeding were similar between treatments, irrespective of renal function, but with a trend for lower bleeding rates with dabigatran versus aspirin in older patients. Conclusions- In subgroup analyses of RE-SPECT ESUS, dabigatran reduced the rate of recurrent stroke compared with aspirin in patients qualifying for the lower dose of dabigatran. These results are hypothesis-generating. Aspirin remains the standard antithrombotic treatment for patients with embolic stroke of undetermined source. Registration- URL: https://www.clinicaltrials.gov; Unique identifier: NCT02239120.
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http://dx.doi.org/10.1161/STROKEAHA.119.028643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379165PMC
June 2020

Safety and Outcomes of Intravenous Thrombolysis in Posterior Versus Anterior Circulation Stroke: Results From the Safe Implementation of Treatments in Stroke Registry and Meta-Analysis.

Stroke 2020 03 9;51(3):876-882. Epub 2020 Jan 9.

From the Department of Neurology, Karolinska University Hospital, Solna, Sweden (B. Keselman, M.V.M.).

Background and Purpose- Posterior circulation stroke (PCS) accounts for 5% to 19% of patients with acute stroke receiving intravenous thrombolysis. We aimed to compare safety and outcomes following intravenous thrombolysis between patients with PCS and anterior circulation stroke (ACS) and incorporate the results in a meta-analysis. Methods- We included patients in the Safe Implementation of Treatments in Stroke Thrombolysis Registry 2013 to 2017 with computed tomography/magnetic resonance angiographic occlusion data. Outcomes were parenchymal hematoma, symptomatic intracerebral hemorrhage (SICH) per SITS-MOST (Safe Implementation of Thrombolysis in Stroke Monitoring Study), ECASS II (Second European Co-operative Stroke Study) and NINDS (Neurological Disorders and Stroke definition), 3-month modified Rankin Scale score, and death. Adjustment for SICH risk factors (age, sex, National Institutes of Health Stroke Scale, blood pressure, glucose, and atrial fibrillation) and center was done using inverse probability treatment weighting, after which an average treatment effect (ATE) was calculated. Meta-analysis of 13 studies comparing outcomes in PCS versus ACS after intravenous thrombolysis was conducted. Results- Of 5146 patients, 753 had PCS (14.6%). Patients with PCS had lower median National Institutes of Health Stroke Scale: 7 (interquartile range, 4-13) versus 13 (7-18), <0.001 and fewer cerebrovascular risk factors. In patients with PCS versus ACS, parenchymal hematoma occurred in 3.2% versus 7.9%, ATE (95% CI): -4.7% (-6.3% to 3.0%); SICH SITS-MOST in 0.6% versus 1.9%, ATE: -1.4% (-2.2% to -0.7%); SICH NINDS in 3.1% versus 7.8%, ATE: -3.0% (-6.3% to 0.3%); SICH ECASS II in 1.8% versus 5.4%, ATE: -2.3% (-5.3% to 0.7%). In PCS versus ACS, 3-month outcomes (70% data availability) were death 18.5% versus 20.5%, ATE: 6.0% (0.7%-11.4%); modified Rankin Scale score 0-1, 45.2% versus 37.5%, ATE: 1.7% (-6.6% to 3.2%); modified Rankin Scale score 0-2, 61.3% versus 49.4%, ATE: 2.4% (3.1%-7.9%). Meta-analysis showed relative risk for SICH in PCS versus ACS being 0.49 (95% CI, 0.32-0.75). Conclusions- The risk of bleeding complications after intravenous thrombolysis in PCS was half that of ACS, with similar functional outcomes and higher risk of death, acknowledging limitations of the National Institutes of Health Stroke Scale for stroke severity or infarct size adjustment.
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http://dx.doi.org/10.1161/STROKEAHA.119.027071DOI Listing
March 2020

Effect of Recanalization on Cerebral Edema in Ischemic Stroke Treated With Thrombolysis and/or Endovascular Therapy.

Stroke 2020 01 10;51(1):216-223. Epub 2019 Dec 10.

From the Department of Neurology, Karolinska University Hospital and Department of Clinical Neuroscience, Karolinska Institutet, Sweden (M.T., N.A.).

Background and Purpose- A large infarct and expanding cerebral edema (CED) due to a middle cerebral artery occlusion confers a 70% mortality unless treated surgically. Reperfusion may cause blood-brain barrier disruption and a risk for cerebral edema and secondary parenchymal hemorrhage (PH). We aimed to investigate the effect of recanalization on development of early CED and PH after recanalization therapy. Methods- From the SITS-International Stroke Treatment Registry, we selected patients with signs of artery occlusion at baseline (either Hyperdense Artery Sign or computed tomography/magnetic resonance imaging angiographic occlusion). We defined recanalization as the disappearance of radiological signs of occlusion at 22 to 36 hours. Primary outcome was moderate to severe CED and secondary outcome was PH on 22- to 36-hour imaging scans. We used logistic regression with adjustment for baseline variables and PH. Results- Twenty two thousand one hundred eighty-four patients fulfilled the inclusion criteria (n=18 318 received intravenous thrombolysis, n=3071 received intravenous thrombolysis+thrombectomy, n=795 received thrombectomy). Recanalization occurred in 64.1%. Median age was 71 versus 71 years and National Institutes of Health Stroke Scale score 15 versus 16 in the recanalized versus nonrecanalized patients respectively. Recanalized patients had a lower risk for CED (13.0% versus 23.6%), adjusted odds ratio (aOR), 0.52 (95% CI, 0.46-0.59), and a higher risk for PH (8.9% versus 6.5%), adjusted odds ratio, 1.37 (95% CI, 1.22-1.55), than nonrecanalized patients. Conclusions- In patients with acute ischemic stroke, recanalization was associated with a lower risk for early CED even after adjustment for higher rate for PH in recanalized patients.
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http://dx.doi.org/10.1161/STROKEAHA.119.026692DOI Listing
January 2020

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

Eur J Med Genet 2020 Apr 26;63(4):103821. Epub 2019 Nov 26.

Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

POLG2 associated disorders belong to the group of mitochondrial DNA (mtDNA) diseases and present with a heterogeneous clinical spectrum, various age of onset, and disease severity. We report a 39-year old female presenting with childhood-onset and progressive neuroophthalmic manifestation with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea associated with mtDNA depletion. Whole-exome sequencing identified an ultra-rare homozygous missense mutation located at Chr17: 062474101-C > A (p.Asp433Tyr) in nuclear POLG2 gene encoding PolγB, an accessory subunits of mitochondrial polymerase γ responsible for mtDNA replication. The healthy parents and 2 sisters of the patient were heterozygous for the variant. To our best knowledge, this is the first case of homozygous variant in the POLG2 gene resulting in mitochondrial depletion syndrome in an adult patient and its clinical manifestations extend the clinical spectrum of POLG2 associated diseases.
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http://dx.doi.org/10.1016/j.ejmg.2019.103821DOI Listing
April 2020

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Genet Med 2019 11 30;21(11):2532-2542. Epub 2019 Apr 30.

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Purpose: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the clinical features of a novel cohort of affected individuals with variants in ZNF142, a CH domain-containing transcription factor.

Methods: Four independent research centers used exome sequencing to elucidate the genetic basis of neurodevelopmental phenotypes in four unrelated families. Following bioinformatic filtering, query of control data sets, and secondary variant confirmation, we aggregated findings using an online data sharing platform. We performed in-depth clinical phenotyping in all affected individuals.

Results: We identified seven affected females in four pedigrees with likely pathogenic variants in ZNF142 that segregate with recessive disease. Affected cases in three families harbor either nonsense or frameshifting likely pathogenic variants predicted to undergo nonsense mediated decay. One additional trio bears ultrarare missense variants in conserved regions of ZNF142 that are predicted to be damaging to protein function. We performed clinical comparisons across our cohort and noted consistent presence of intellectual disability and speech impairment, with variable manifestation of seizures, tremor, and dystonia.

Conclusion: Our aggregate data support a role for ZNF142 in nervous system development and add to the emergent list of zinc finger proteins that contribute to neurocognitive disorders.
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http://dx.doi.org/10.1038/s41436-019-0523-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821592PMC
November 2019

The insomnia phenotype in genetic Creutzfeldt-Jakob disease based on the E200K mutation.

Prion 2019 01;13(1):77-82

a Department of Neurology , P.J. Safarik University , Kosice , Slovakia.

The aim of the presented study was to reveal the frequency of insomnia spells in E200K genetic Creutzfeldt-Jakob disease (gCJD) patients. Clinical records of 22 subjects diagnosed with E200K gCJD were retrospectively reviewed. The patients w/wo insomnia (n = 4, 18%/n = 18, 82%) did not differ in age, sex and the duration of the symptomatic phase. Analysis of the clinical features in the groups yielded differences in the clinical signs in the early phase of the disorder, proportion of homozygotes (Met/Met) at codon 129, MRI changes in the thalamus and the typical EEG abnormality. The study suggests that apart from traditional clinical features, the insomnia is not a rare early symptom in phenotype of E200K gCJD based on early thalamic involvement.
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http://dx.doi.org/10.1080/19336896.2019.1590938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000144PMC
January 2019

Creutzfeldt-Jakob disease surveillance in Eastern Slovakia from 2004 to 2016.

Cent Eur J Public Health 2018 Dec;26 Suppl:S37-S41

Department of Neurology, Faculty of Medicine, Pavol Jozef Safarik University in Kosice and Louis Pasteur University Hospital, Kosice, Slovak Republic.

Objectives: An extraordinary incidence of genetic Creutzfeldt-Jakob disease (gCJD) appearing in clusters in the Slovak Republic was described in the 1990's. The aim of the study was to analyse data of CJD cases obtained from surveillance in Eastern Slovakia (ES) (2004-2016), the region outside the described geographical clusters.

Methods: The database set in the project was the source for epidemiological and clinical analysis of CJD cases.

Results: The incidence of CJD in ES (2004-2016) was 1.7/million person-years (95% CI 1-2.4); the incidence increase in the last five years (2012-2016) was comparable to the whole country. Twenty seven of 29 reported CJD cases were available for analysis (mean age 59 years, F/M 15/12). The proportion of gCJD (E200K mutation) cases remained dominant (78%), with 9 familiar cases originating in 4 families. Analysis of the clinical features revealed shorter duration of the symptomatic phase in sporadic CJD (sCJD) (3.4 months) versus gCJD (5.15 months). Cognitive/behavioural changes, insomnia, and sensory disturbance were more pronounced in the early symptoms of gCJD. Periodic EEG discharges were more frequent in sCJD (83%) than gCJD (56%), all 19 available MR findings were CJD specific and localisation of abnormalities varied amongst the CJD forms.

Conclusions: The surveillance of CJD in ES (2004-2016) showed an increased incidence of CJD in ES, reaching the incidence rate of the whole country, with a permanent proportion of 70% gCJD cases based on the E200K mutation. Clinical, electrophysiological and MR features of sCJD and gCJD cases were in conformity with already published data. Epidemiological analysis of CJD in ES shows increasing detection of CJD but also suggests that current routine surveillance systems for CJD may underestimate the true burden of disease, especially sporadic cases in Slovakia.
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http://dx.doi.org/10.21101/cejph.a5277DOI Listing
December 2018

Intravenous Thrombolysis for Ischemic Stroke Patients on Dual Antiplatelets.

Ann Neurol 2018 07 30;84(1):89-97. Epub 2018 Jul 30.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

Objective: We assessed the outcomes of intravenous thrombolysis (IVT) in acute ischemic stroke (AIS) patients on dual antiplatelet therapy prior to stroke onset.

Methods: We analyzed prospectively collected data from the Safe Implementation of Treatments in Stroke (SITS) International Stroke Thrombolysis Register on consecutive IVT-treated AIS patients during a 7-year period (2010-2017). In propensity score matched groups of patients with dual antiplatelet pretreatment and no antiplatelet pretreatment, we compared: (1) symptomatic intracerebral hemorrhage (SICH), according to SITS Monitoring Study (MOST), European Cooperative Acute Stroke Study (ECASS) II, and National Institute of Neurological Disorders and Stroke (NINDS) definitions; (2) 3-month mortality; (3) 3-month favorable functional outcome (FFO; modified Rankin Scale [mRS] scores = 0-1); (4) 3-month functional independence (FI; mRS scores = 0-2); and (5) distribution of the 3-month mRS scores. Dual antiplatelet pretreatment was defined as all possible combinations among aspirin, clopidogrel, dipyridamole, and any other antiplatelet.

Results: Propensity score matching resulted in 2 groups of 1,043 patients each, balanced for all baseline characteristics. In the propensity score matched analysis, the 2 groups had comparable (p > 0.017 using Bonferroni correction for multiple comparisons) SICH rates according to SITS-MOST (2.9% vs 1.5%, 95% confidence interval [CI] = -0.03 to -0.01), ECASS II (5.2% vs 4.4%, 95% CI = -0.03 to 0.01), and NINDS (7.7% vs 6.6%, 95% CI = -0.03 to 0.01) definitions. No differences in the 3-month mortality (17.9% vs 16.6%, 95% CI = -0.05 to 0.02), FFO (45.6% vs 46.0%, 95% CI = -0.04 to 0.05), FI (59.2% vs 60.7%, 95% CI = -0.03 to 0.06), or distribution in 3-month mRS scores (2 [1-4] vs 2 [0-4], 95% CI = -0.29 to 0.09) were documented between the 2 groups.

Interpretation: Given that patients on dual antiplatelet pretreatment have similar SICH, 3-month mortality rates, and functional outcomes compared to patients with no antiplatelet pretreatment, dual antiplatelet pretreatment history should not be used as a reason to withhold IVT in otherwise eligible AIS patients. Ann Neurol 2018;83:89-97.
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http://dx.doi.org/10.1002/ana.25269DOI Listing
July 2018

Identification of new phosphorylation sites of CD23 in B-cells of patients with chronic lymphocytic leukemia.

Leuk Res 2018 07 9;70:25-33. Epub 2018 May 9.

DB Biotech, Popradska 80, 04011 Kosice, Slovakia. Electronic address:

B-cell chronic lymphocytic leukemia (B-CLL) is the most common lymphoproliferative disorder in adults. Patients with B-CLL strongly express the CD23 - C type of lectin (low affinity IgE receptor, Fc epsilon RII), which is linked to B cell activation and proliferation. Phosphorylation in lymphocytes is tightly associated with regulation of protein activities, functional regulation and cell signaling, and may thus affect initiation and/or progression of the disease. Here we report changes in the phosphorylation of CD23 on threonine (pThr314) and two serine residues (pSer254, pSer265) in B lymphocytes of B-CLL patients, using a flow cytometry approach. The majority of tested patients with active forms of B-CLL presented a notable overexpression of CD23 along with pThr314, pSer254, and pSer265 CD23 phosphorylation positivity. Moreover, we have experimentally stimulated the CD23 phosphorylations in a subset of peripheral blood lymphocytes of healthy controls by phorbol-12-myristate-13-acetate treatment. This affects the activation of competent phosphorylation mediating kinases, resulting in the enhanced phosphorylation pattern. Together, these data confirm that CD23 protein is phosphorylated in B cells of B-CLL patients, report the identification of new CD23 phosphorylation sites, and suggest a possible role(s) of such phosphorylations in the activation of CD23 during the process of lymphocytic activation in B-CLL.
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http://dx.doi.org/10.1016/j.leukres.2018.05.002DOI Listing
July 2018

Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.

Parkinsonism Relat Disord 2018 07 28;52:83-89. Epub 2018 Mar 28.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS_1127, CIC_1422, CNRS UMR_7225, AP-HP, ICM, Hôpital Pitié-Salpêtrière, Département des maladies du système nerveux, F-75013, Paris, France.

Background: The relationship between Health-Related Quality of Life (HRQoL) and MDS-UPDRS has not been fully studied so far. The aim of this study was to evaluate the relationship between all MDS-UPDRS components and HRQoL in a representative international cohort of PD patients.

Methods: We collected demographic and disease-related data as well as MDS-UPDRS and PDQ8 scales. Data were analyzed using correlations between PDQ8 and all MDS-UPDRS items, subsequently two hierarchical multiple regressions were performed, first between the scores of the MDS-UPDRS Parts and PDQ8 and second between individual items from those Parts demonstrating significant relationship to PDQ8 scores in the first regression. LASSO regression analyses were performed to evaluate the relationship between PDQ8 and all individual MDS-UPDRS items.

Results: A total of 3206 PD patients were included in the study. In the first regression analysis, PDQ8 was significantly related to MDS-UPDRS parts I and II, but not to III and IV. In the second regression model, significant contributions to PDQ8 were found for Part I items Fatigue, Pain, Depressed mood, Apathy; and Part II items Dressing, Doing hobbies, Freezing, Speech and Tremor. In the LASSO analysis, six Part I, seven Part II, three Part III and one Part IV items contributed to PDQ8 scores. The five items most significantly related to the model were Depressed mood, Dressing, Apathy, Pain and Fatigue.

Conclusions: This is so far the largest study related to HRQoL issues in PD. Restrictions in activities of daily living and non-motor symptoms significantly contribute to HRQoL in PD.
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http://dx.doi.org/10.1016/j.parkreldis.2018.03.027DOI Listing
July 2018