5 documents found, page 1 of 1
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort
Vollstedt, Eva‐Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, MarieBackground: 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. Objectiv...
Defining the riddle in order to solve it: there is more than one “Parkinson's d...
Outeiro, Tiago; Alcalay, Roy N.; Antonini, Angelo; Attems, Johannes; Bonifati, Vincenzo; Cardoso, Francisco; Chesselet, Marie‐Françoise; Hardy, JohnBackground: More than 200 years after James Parkinsondescribed a clinical syndrome based on his astute observations, Parkinson's disease (PD) has evolved into a complex entity, akin to the heterogeneity of other complex human syndromes of the central nervous system such as dementia, motor neuron disease, multiple sclerosis, and epilepsy. Clinicians, pathologists, and basic science researchers evolved arrange of...
The Central Biobank and Virtual Biobank of BIOMARKAPD: A Resource for Studies o...
Reijs, Babette L R; Teunissen, Charlotte E; Goncharenko, Nikolai; Betsou, Fay; Blennow, Kaj; Baldeiras, Inês; Brosseron, Frederic; Cavedo, EnricaBiobanks are important resources for biomarker discovery and assay development. Biomarkers for Alzheimer's and Parkinson's disease (BIOMARKAPD) is a European multicenter study, funded by the EU Joint Programme-Neurodegenerative Disease Research, which aims to improve the clinical use of body fluid markers for the diagnosis and prognosis of Alzheimer's disease (AD) and Parkinson's disease (PD). The objective was...
Validation of a quantitative cerebrospinal fluid alpha-synuclein assay in a Eur...
Kruse, Niels; Persson, Staffan; Alcolea, Daniel; Bahl, Justyna M.C.; Baldeiras, Ines; Capello, Elisabetta; Chiasserini, DavideDecreased levels of alpha-synuclein (aSyn) in cerebrospinal fluid (CSF) in Parkinson's disease and related synucleinopathies have been reported, however, not consistently in all cross-sectional studies. To test the performance of one recently released human-specific enzyme-linked immunosorbent assay (ELISA) for the quantification of aSyn in CSF, we carried out a round robin trial with 18 participating laborator...
Systematic comparison of the effects of Alpha-synuclein mutations on its oligom...
Lázaro, Diana F.; Rodrigues, Eva F.; Langohr, Ramona; Shahpasandzadeh, Hedieh; Ribeiro, Thales; Guerreiro, Patrícia; Gerhardt, EllenAggregation of alpha-synuclein (ASYN) in Lewy bodies and Lewy neurites is the typical pathological hallmark of Parkinson's disease (PD) and other synucleinopathies. Furthermore, mutations in the gene encoding for ASYN are associated with familial and sporadic forms of PD, suggesting this protein plays a central role in the disease. However, the precise contribution of ASYN to neuronal dysfunction and death is u...