scholarly journals AETIONOMY, a Cross-Sectional Study Aimed at validating a new taxonomy of Neurodegenerative Diseases: Study design and subject characteristics

Author(s):  
Jean Christophe Corvol ◽  
Sarah Bujac ◽  
Stephanie Carvalho ◽  
Bethan Clarke ◽  
Jacqueline Marovac ◽  
...  

AbstractBackgroundAlthough advances in the understanding of neurodegenerative diseases (NDDs) have led to improvements in classification and diagnosis and most importantly to new therapies, the unmet medical needs remain significant due to high treatment failure rates. The AETIONOMY project funded by the Innovative Medicine Initiative (IMI) aims at using multi-OMICs and bioinformatics to identify new classifications for NDDs based on common molecular pathophysiological mechanisms in view of improving the availability of personalised treatments.ObjectivesThe purpose of the AETIONOMY cross-sectional study is to validate novel patient classification criteria provided by these tools.MethodsThis was a European multi centre, cross-sectional, clinical study conducted at 6 sites in 3 countries. Standardised clinical data, biosamples from peripheral blood, cerebrospinal fluid, skin biopsies, and data from a multi-OMICs approach were collected in patients suffering from Alzheimer’s and Parkinson’s disease, as well as healthy controls.ResultsFrom September 2015 to December 2017 a total of 421 participants were recruited including 95 Healthy Controls. Nearly 1,500 biological samples were collected. The study achieved its objective with respect to Parkinson’s disease (PD) recruitment, however it was unable to recruit many new Alzheimer Disease (AD) patients. Overall, data from 413 evaluable subjects (405 PD and 8 AD) are available for analysis. PD patients and controls were well matched with respect to age (mean 63.4 years), however, close gender matching was not achieved. Approximately half of all PD patients and one At-Risk subject were taking dopamine agonists; rates of Levodopa usage were slightly higher (∼60%). Median MDS-UPDRS Part III Scores (OFF state) ranged from 45 (SD 18) in those with Genetic PD to 2 (SD 3) in Healthy Controls. The standardised methodologies applied resulted in a high-quality database with very few missing data.ConclusionThis is one of the collaborative multi-OMICs studies in individuals suffering from PD and AD involving a control group. It is expected that the integration of data will provide new biomarker-led descriptions of clusters of patient subgroups.

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Constanza San Martín Valenzuela ◽  
Lirios Dueñas Moscardó ◽  
Juan López-Pascual ◽  
Pilar Serra-Añó ◽  
José M. Tomás

2020 ◽  
Author(s):  
Ana Gámez-Valero ◽  
Jaume Campdelacreu ◽  
Dolores Vilas ◽  
Lourdes Ispierto ◽  
Daniela Samaniego ◽  
...  

ABSTRACTDementia with Lewy bodies (DLB) is one of the most common causes of degenerative dementia after Alzheimer’s disease (AD) and presents pathological and clinical overlap with both AD and Parkinson’s disease (PD). Consequently, only one in three DLB cases is diagnosed correctly. Platelets, previously related to neurodegeneration, contain microRNAs (miRNAs) whose analysis may provide disease biomarkers. Here, we profiled the whole platelet miRNA transcriptome from DLB patients and healthy controls. Differentially expressed miRNAs were further validated in three consecutive studies from 2017 to 2019 enrolling 162 individuals, including DLB, AD, and PD patients, and healthy controls. Results comprised a 7-miRNA biosignature, showing the highest diagnostic potential for the differentiation between DLB and AD. Additionally, compared to controls, two miRNAs were down-regulated in DLB, four miRNAs were up-regulated in AD, and two miRNAs were down-regulated in PD. Predictive target analysis identified three disease-specific clusters of pathways as a result of platelet-miRNA deregulation. Our cross-sectional study assesses the identification of a novel, highly specific and sensitive platelet-associated miRNA-based bio-signature, which distinguishes DLB from AD.The paper explainedProblemDementia with Lewy bodies (DLB) presents pathological and clinical overlap with both Alzheimer’s (AD) and Parkinson’s disease (PD), which impairs its correct diagnosis. Although numerous papers report peripheral biomarkers for AD, well-established biomarkers for DLB distinguishing it from AD are still missing. Platelet miRNA transcriptome was analyzed in several works, but their putative role as disease biomarkers for neurological disorders has not been assessed. It would be of paramount importance to establish a blood-based bio-signature as a minimally invasive mean for DLB diagnosis, improving differentiation of DLB patients from controls and AD.ResultsOur study revealed that platelet miRNAs might be promising biomarkers for the correct diagnosis of DLB stratifying patients in comparison with overlapping disorders, especially AD, and may help to highlight possible disease-related processes. In this cross-sectional study, which includes 162 individuals (DLB, AD, PD and healthy controls), platelet-associated miRNA content was disease group-specific. Three different miRNA sets together with their predicted targeted pathways were defined.ImpactThis study suggests that platelet miRNA may serve as DLB biomarker allowing the correct diagnosis and stratification in an easily-applied manner in clinical settings, and may help to highlight possible disease-related processes.


2020 ◽  
Vol 41 (11) ◽  
pp. 3201-3207
Author(s):  
Luciano Bissolotti ◽  
Janis Ruggeri ◽  
Matteo Rota ◽  
Stefano Calza ◽  
Costantino Cosimo

BMJ Open ◽  
2014 ◽  
Vol 4 (1) ◽  
pp. e003976 ◽  
Author(s):  
Eirik Auning ◽  
Veslemøy Krohn Kjærvik ◽  
Per Selnes ◽  
Dag Aarsland ◽  
Astrid Haram ◽  
...  

Author(s):  
Arun Kurupath ◽  
Praveen Arathil ◽  
Rahul Bansal

Introduction: Parkinson’s Disease (PD) is a progressive neurodegenerative disorder where the individual over time needs more and more assistance from their caregivers to carry on their life and that causes increasing burden on the caregiver. The burden for the caregiver is affecting them physically, mentally and also on a socioeconomic level. Aim: To examine the factors related to caregiver burden in caregivers of Parkinson’s patients. Materials and Methods: This was a cross-sectional study conducted in Parkinson’s clinic of a Tertiary Care Hospital of Kochi, on 100 Parkinsonism patients and their respective caregivers. Patients were assessed using the Unified PD Rating Scale (UPDRS), Hoehn and Yahr Scale (H&Y) and Mini-Mental State Examination (MMSE). Caregivers were assessed using Zerit’s Caregiver Burden inventory (CBI). Semi structured questionnaire was administered for socio-demographic details. Non parametric tests were done to examine the correlation among various variables. Results: Among the patients and caregivers, mean age was 70.65±7.30 and 67.31±8.56, respectively. Among the patient’s majority were males (n=74) while among caregivers, majority were females (n=73). Mean duration of disease was 6.79±2.68 years, mean caregiver burden score was 65.05±21.79, mean UPDRS score was 21.89±8.74 and had significant positive correlation with caregiver burden. Mean MMSE score was 17.19±4.91. The disease duration and UPDRS score had a significant positive correlation with caregiver burden score. MMSE score had significant negative correlation with caregiver burden score. Conclusion: This study concludes that a patient’s Parkinsonism related disability accounts for majority of caregiver burden. An early identification of factors contributing to stress in caregivers will help to avoid its persistency leading to a better insight in the caregiving role and thus in-patient care.


Gerontology ◽  
2018 ◽  
Vol 65 (3) ◽  
pp. 216-228 ◽  
Author(s):  
Marina Peball ◽  
Philipp Mahlknecht ◽  
Mario Werkmann ◽  
Kathrin Marini ◽  
Franziska Murr ◽  
...  

Background: Sarcopenia and frailty are found in up to one-third of the general elderly population. Both are associated with major adverse health outcomes such as nursing home placement, disability, decreased quality of life, and death. Data on the frequency of both syndromes in Parkinson’s disease (PD), however, are very limited. Objective: We aimed to screen for sarcopenia and frailty in PD patients and to assess potential associations of both geriatric syndromes with demographic and clinical parameters as well as quality of life. Methods: In this observational, cross-sectional study, we included 104 PD patients from a tertiary center and 330 non-PD controls from a population-based cohort aged > 65 years. All groups were screened for sarcopenia using the SARC-F score and for frailty using the Clinical Frailty Scale of the Canadian Study of Health and Aging (CSHA CFS). Prevalence rates of sarcopenia and frailty were also assessed in 18 PD patients from a population-based cohort aged > 65 years. Moreover, PD patients from the tertiary center were evaluated for motor and non-motor symptoms, quality of life, and dependency. Results: The prevalence of sarcopenia was 55.8% (95% CI: 46.2–64.9%) in PD patients from the tertiary center and 8.2% (5.7–11.7%; p < 0.001) in non-PD controls. Frailty was detected in 35.6% (27.0–45.2%) and 5.2% (3.2–8.1%; p < 0.001). Prevalence rates for sarcopenia and frailty were 33.3% (16.1–56.4%; p = 0.004) and 22.2% (8.5–45.8%; p = 0.017) in the community-based PD sample. Both sarcopenia and frailty were significantly associated with longer disease duration, higher motor impairment, higher Hoehn and Yahr stages, decreased quality of life, higher frequency of falls, a higher non-motor symptom burden, institutionalization, and higher care levels in PD patients from a tertiary center compared to not affected PD patients (all p < 0.05). Conclusions: Both frailty and sarcopenia are more common in PD patients than in the general community and are associated with a more adverse course of the disease. Future studies should look into underlying risk factors for the occurrence of sarcopenia and frailty in PD patients and into adequate management to prevent and mitigate them.


2019 ◽  
Vol 28 (17-18) ◽  
pp. 3168-3176 ◽  
Author(s):  
Leire Ambrosio ◽  
Mari Carmen Portillo ◽  
Carmen Rodriguez‐Blazquez ◽  
Jose Manuel Rojo ◽  
Pablo Martinez‐Martin ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document