38 results match your criteria: "Centre d'Investigation Clinique Neurosciences[Affiliation]"
[Multiple sclerosis: The hopes of research].
Med Sci (Paris)
October 2024
Centre interdisciplinaire de recherche en biologie (CIRB), Collège de France, CNRS, Inserm, Université PSL Paris France.
Development and validation of the DBS-PS (Deep Brain Stimulation-Perception Scale): Assessing parkinsonian patients' expectations to prevent post-operative disappointment?
J Neurol Sci
July 2024
Université de Lille, INSERM, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, LICEND, NS-PARK/FCRIN Network, Lille, France; CHU Lille, Neurology and Movement Disorders Department, Reference Center for Parkinson's Disease, NS-PARK/FCRIN Network, Lille, France.
Article Synopsis
- Recent studies indicate that understanding the preoperative expectations of Parkinson's disease patients undergoing deep brain stimulation (DBS) can enhance treatment outcomes, but there are limited validated tools to measure these expectations.
- The DBS-PS (Deep Brain Stimulation - Perception Scale) was developed as an 11-item self-administered questionnaire, divided into three domains: expectations for PD, social-life and leisure, and intimate life, and validated through exploratory factor analysis and item response theory.
- The study showed that the DBS-PS has good reliability and validity, making it a practical tool for assessing patient expectations in clinical practice, which may help in cognitive restructuring before surgery.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Lancet Neurol
June 2024
McKnight Brain Institute, Department of Neurology, University of Florida, Gainesville, FL, USA; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address:
Background: Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.
View Article and Find Full Text PDFA pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
medRxiv
January 2024
McKnight Brain Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic variability in familial PD.
View Article and Find Full Text PDFUnveiling Assessment Gaps in Parkinson's Disease Psychosis: A Scoping Review.
Mov Disord
March 2024
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.
Background: Parkinson's disease psychosis (PDP) is a multidimensional construct that is challenging to measure. Accurate assessment of PDP requires comprehensive and reliable clinical outcome assessment (COA) measures.
Objective: To identify PDP measurement gaps in available COAs currently used in clinical and research settings.
Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease.
Mov Disord
September 2023
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.
Confusion of Evidence-Based Reviews and Guidelines.
Mov Disord
March 2023
Grenoble Alpes University, Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, INSERM U1216, Grenoble, France.
Confusion of evidence-based reviews and guidelines.
Eur J Neurol
June 2023
Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, INSERM U1216, Grenoble Alpes University, Grenoble, France.
Comparison of mean diffusivity, R2* relaxation rate and morphometric biomarkers for the clinical differentiation of parkinsonism.
Parkinsonism Relat Disord
March 2023
ICM, Centre de NeuroImagerie de Recherche-CENIR, Paris, France; ICM, Team "Movement Investigations and Therapeutics" (MOV'IT), Paris, France; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inserm, AP-HP, Hôpital de la Pitié Salpêtrière, DMU DIAMENT, Department of Neuroradiology, F-75013, Paris, France.
Introduction: Quantitative biomarkers for clinical differentiation of parkinsonian syndromes are still lacking. Our aim was to evaluate the value of combining clinically feasible manual measurements of R2* relaxation rates and mean diffusivity (MD) in subcortical regions and brainstem morphometric measurements to improve the discrimination of parkinsonian syndromes.
Methods: Twenty-two healthy controls (HC), 25 patients with Parkinson's disease (PD), 19 with progressive supranuclear palsy (PSP) and 27 with multiple system atrophy (MSA, 21 with the parkinsonian variant -MSAp, 6 with the cerebellar variant -MSAc) were recruited.
Neuromelanin-Sensitive Magnetic Resonance Imaging Changes in the Locus Coeruleus/Subcoeruleus Complex in Patients with Typical and Atypical Parkinsonism.
Mov Disord
March 2023
Paris Brain Institute (ICM), Sorbonne Université, INSERM U1127, CNRS 7225, Pitié-Salpêtrière Hospital, Paris, France.
Background: The locus coeruleus/subcoeruleus complex (LC/LsC) is a structure comprising melanized noradrenergic neurons.
Objective: To study the LC/LsC damage across Parkinson's disease (PD) and atypical parkinsonism in a large group of subjects.
Methods: We studied 98 healthy control subjects, 47 patients with isolated rapid eye movement sleep behavior disorder (RBD), 75 patients with PD plus RBD, 142 patients with PD without RBD, 19 patients with progressive supranuclear palsy (PSP), and 19 patients with multiple system atrophy (MSA).
Trial of Deferiprone in Parkinson's Disease.
N Engl J Med
December 2022
From the Departments of Medical Pharmacology (D. Devos, A.-S.R., R.B., J.-C.D.), Neuroradiology (R.V., G.K., R.L., J.-P.P.), and Neurology (L.D., C.M.), University of Lille, Lille Neuroscience and Cognition, Team DVCD, INSERM Unité Mixte de Recherche Scientifique (UMRS) 1172, Centre Hospitalier Universitaire (CHU) de Lille, Expert Center of Parkinson's Disease, Lille Center of Excellence for Neurodegenerative Disorders (LiCEND) Network of Centers of Excellence in Neurodegeneration (CoEN) Center, NS-Park/FCRIN network, the Department of Biostatistics, University of Lille, CHU de Lille (J.L., A.D.), CHU de Lille, Direction de la Recherche et de l'Innovation (P.G.D., T.O., C.P., C.L.) and Vigilance des Essais Cliniques and Service de Pharmacologie (T.O., C.P., C.L.), CHU de Lille, Laboratoire de Biochimie-Hormonologie, Centre de Biologie Pathologie (P.P.), the University of Lille, CHU de Lille, Institut Pasteur de Lille, ULR4483-Impact de l'Environnement Chimique sur la Santé Humaine (G.G., O.S., J.C.), and the University of Lille, INSERM, CHU de Lille, Unité 1172-Degenerative and Vascular Cognitive Disorders (D. Deplanque), Lille, Clinical Investigation Center 1436, Departments of Neurosciences and Clinical Pharmacology, NS-Park/FCRIN network and NeuroToul CoEN Center, University Hospital of Toulouse, INSERM, University of Toulouse 3, Toulouse (O.R., F.O.-M.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), INSERM, Centre National de la Recherche Scientifique (CNRS), Paris Brain Institute-Institut du Cerveau et de la Moelle Épinière (ICM), Department of Neurology, Centre d'Investigation Clinique Neurosciences, Hôpital Pitié-Salpêtrière (J.-C.C.), Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, and AP-HP, Hôpital Pitié-Salpêtrière, Department of Nuclear Medicine (M.-O.H.), Centre pour l'Acquisition et le Traitement des Images, US52-UAR2031, Commissariat à l'Énergie Atomique et aux Énergies Alternatives (CEA), ICM, Sorbonne Université, CNRS, INSERM, AP-HP (M.-O.H., J.-F.M., M.C.), Paris Brain Institute-ICM, Center for Neuroimaging Research, Sorbonne Université, INSERM Unité 1127, CNRS 7225, Department of Neuroradiology, Hôpital Pitié-Salpêtrière, AP-HP (S.L.), and ICM, CNRS UMR 7725, INSERM, Unité 1127, Sorbonne Université (J.-F.M., M.C.), Paris, the Department of Neurology, NS-Park/FCRIN network, Strasbourg University Hospital, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg (C.T.), Assistance Publique-Hôpitaux de Marseille, Department of Neurology and Movement Disorders, Timone University Hospital and Institut de Neurosciences de la Timone, Unité Mixte de Recherche (UMR) 7289, CNRS-Aix Marseille Université, Marseille (A.E.), University of Lyon, CNRS, UMR 5229, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie, Centre Expert Parkinson NS-Park/FCRIN network, Bron (S.T.), Université Clermont Auvergne, EA7280, Clermont-Ferrand University Hospital, Neurology Department, Clermont-Ferrand (A.-R.M.), CHU de Bordeaux, Service de Neurologie des Maladies Neurodégénératives, Institut des Maladies Neurodégénératives (IMN) Clinique, University of Bordeaux, CNRS, IMN, UMR 5293, Bordeaux (W.G.M.), and Université Paris-Saclay, CEA, CNRS, NeuroSpin, Baobab, Gif-sur-Yvette (J.-F.M., M.C.) - all in France; the Department of Neurology, Medical University Innsbruck, Innsbruck, Austria (W.P., K.S.); Parkinson's Disease and Movement Disorders Unit, Hospital Clínic de Barcelona-Institut d'Investigacions Biomèdiques August Pi I Sunyer-Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)-European Reference Network for Rare Neurological Diseases, Maria de Maeztu Excellence Center-Institut de Neurociències, Universitat de Barcelona (Y.C.), and the Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Department of Medicine, Sant Pau Biomedical Research Institute, and CIBERNED (J.K.), Barcelona, and the Movement Disorders Unit, Hospital Germans Trias i Pujol, Badalona (D.V.) - all in Spain; Clinical Ageing Research Unit, Newcastle University, Newcastle upon Tyne (N.P.), Addenbrooke's Hospital (P.W.) and the ALBORADA Drug Discovery Institute, University of Cambridge, Cambridge Biomedical Campus (J.A.D.), Cambridge, and Parkinson's UK, London (D.T.D.) - all in the United Kingdom; the Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic (E.R., P.D.); Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Nijmegen (B.P., B.R.B.), and Amsterdam UMC location University of Amsterdam, Department of Neurology, and Amsterdam Neuroscience, Neurodegeneration, Amsterdam (R.M.A.B.) - all in the Netherlands; the Department of Neurology, Christian Albrechts University Kiel, Kiel (D.B., W.M.), the Department of Neurology, University Clinic, Ulm (M.O.), the Department of Geriatric Medicine, University Duisburg-Essen, Essen (R.D.), Rostock University Medical Center, Department of Neurology, and the German Center for Neurodegenerative Diseases, Research Site Rostock, Rostock (U.W.), and University Hospital of the Saarland, Homburg (S.B.) - all in Germany; Centro de Investigação em Arquitetura, Urbanismo e Design, Faculdade de Arquitetura, Universidade de Lisboa (J.F.), and Hospital de Santa Maria (M.V.S.C.), Lisbon, the Department of Neurology, Hospital da Senhora da Oliveira, Guimarães (M.G.), Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga (M.G.), and Hopitais da Universidade de Coimbra, Department of Neurology, Coimbra (C.J.) - all in Portugal; the Department of Medicine, University of Otago, Christchurch Campus, and New Zealand Brain Research Institute - both in Christchurch, New Zealand (W.G.M.); the Department of Medical Sciences, Neurology, Uppsala University, Uppsala, Sweden (D.N.); Leslie Dan Faculty of Pharmacy, University of Toronto, ApoPharma, and Chiesi Canada - all in Toronto (C.F., M.S., F.T.); Melbourne Dementia Research Centre, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australia (S.A., A.I.B., J.A.D.); and the Department of Biological Chemistry, Alexander Silberman Institute of Life Sciences, Hebrew University, Jerusalem, Israel (I.C.).
Background: Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to the pathophysiology of the disorder. Early research suggests that the iron chelator deferiprone can reduce nigrostriatal iron content in persons with Parkinson's disease, but its effects on disease progression are unclear.
Methods: We conducted a multicenter, phase 2, randomized, double-blind trial involving participants with newly diagnosed Parkinson's disease who had never received levodopa.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Brain
April 2023
Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants.
View Article and Find Full Text PDFMachine Learning-Based Prediction of Impulse Control Disorders in Parkinson's Disease From Clinical and Genetic Data.
IEEE Open J Eng Med Biol
May 2022
Department of NeurologyParis Brain Institute, Inserm, CNRS, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique Neurosciences, Hôpital Pitié-Salpêtrière F-75013 Paris France.
: Impulse control disorders (ICDs) are frequent non-motor symptoms occurring during the course of Parkinson's disease (PD). The objective of this study was to estimate the predictability of the future occurrence of these disorders using longitudinal data, the first study using cross-validation and replication in an independent cohort. We used data from two longitudinal PD cohorts (training set: PPMI, Parkinson's Progression Markers Initiative; test set: DIGPD, Drug Interaction With Genes in Parkinson's Disease).
View Article and Find Full Text PDFEuropean Academy of Neurology/Movement Disorder Society-European Section Guideline on the Treatment of Parkinson's Disease: I. Invasive Therapies.
Mov Disord
July 2022
Division of Neurology, Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, Grenoble, France.
Background And Purpose: This update of the treatment guidelines was commissioned by the European Academy of Neurology and the European section of the Movement Disorder Society. Although these treatments are initiated usually in specialized centers, the general neurologist should know the therapies and their place in the treatment pathway.
Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the spectrum of approved interventions including deep brain stimulation (DBS) or brain lesioning with different techniques (radiofrequency thermocoagulation, radiosurgery, magnetic resonance imaging-guided focused ultrasound surgery [MRgFUS] of the following targets: subthalamic nucleus [STN], ventrolateral thalamus, and pallidum internum [GPi]).
European Academy of Neurology/Movement Disorder Society - European Section guideline on the treatment of Parkinson's disease: I. Invasive therapies.
Eur J Neurol
September 2022
Division of Neurology, Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, Grenoble, France.
Background And Purpose: This update of the treatment guidelines was commissioned by the European Academy of Neurology and the European section of the Movement Disorder Society. Although these treatments are initiated usually in specialized centers, the general neurologist and general practitioners taking care of PD patients should know the therapies and their place in the treatment pathway.
Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the spectrum of approved interventions including deep brain stimulation (DBS) or brain lesioning with different techniques (radiofrequency thermocoagulation, radiosurgery, magnetic resonance imaging-guided focused ultrasound surgery [MRgFUS] of the following targets: subthalamic nucleus [STN], ventrolateral thalamus, and pallidum internum [GPi]).
Reply to: Cognitive Effects of Deep Brain Stimulation in GBA-Related Parkinson's Disease.
Ann Neurol
August 2022
Department of Neurological Sciences, Rush University Medical Center, Chicago, IL.
Background: Neurodegeneration in the substantia nigra pars compacta (SNc) in parkinsonian syndromes may affect the nigral territories differently.
Objective: The objective of this study was to investigate the regional selectivity of neurodegenerative changes in the SNc in patients with Parkinson's disease (PD) and atypical parkinsonism using neuromelanin-sensitive magnetic resonance imaging (MRI).
Methods: A total of 22 healthy controls (HC), 38 patients with PD, 22 patients with progressive supranuclear palsy (PSP), 20 patients with multiple system atrophy (MSA, 13 with the parkinsonian variant, 7 with the cerebellar variant), 7 patients with dementia with Lewy body (DLB), and 4 patients with corticobasal syndrome were analyzed.
Down-Regulation of Dopamine Transporter in Early Premotor Phases.
Mov Disord
March 2022
Sorbonne University, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
THN 102 for Excessive Daytime Sleepiness Associated with Parkinson's Disease: A Phase 2a Trial.
Mov Disord
February 2022
Departments of Neurology and Clinical Pharmacology, Centre of Clinique Investigations, NS-Park/FCRIN Network, Centre of Excellence for Neurodegenerative Disorders (COEN) of Toulouse, CHU de Toulouse, Toulouse 3 University, NS-PARK/FCRIN Network, Toulouse, France.
Background: Excessive daytime sleepiness (EDS) is a frequent and disabling symptom of Parkinson's disease (PD) without approved treatment. THN102 is a novel combination drug of modafinil and low-dose flecainide.
Objective: The aim of this study is to evaluate the safety and efficacy of THN102 in PD patients with EDS.
Compensatory Mechanisms Nine Years Before Parkinson's Disease Conversion in a LRRK2 R1441H Family.
Mov Disord
February 2022
Institut du Cerveau - Paris Brain Institute - ICM, Sorbonne University, INSERM, CNRS, Paris, 75013, France.
Multi-cohort profiling reveals elevated CSF levels of brain-enriched proteins in Alzheimer's disease.
Ann Clin Transl Neurol
July 2021
Division of Affinity Proteomics, Department of Protein Science, SciLifeLab, KTH Royal Institute of Technology, Stockholm, Sweden.
Objective: Decreased amyloid beta (Aβ) 42 together with increased tau and phospho-tau in cerebrospinal fluid (CSF) is indicative of Alzheimer's disease (AD). However, the molecular pathophysiology underlying the slowly progressive cognitive decline observed in AD is not fully understood and it is not known what other CSF biomarkers may be altered in early disease stages.
Methods: We utilized an antibody-based suspension bead array to analyze levels of 216 proteins in CSF from AD patients, patients with mild cognitive impairment (MCI), and controls from two independent cohorts collected within the AETIONOMY consortium.
The spatiotemporal changes in dopamine, neuromelanin and iron characterizing Parkinson's disease.
Brain
November 2021
Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, INSERM, CNRS, 75013 Paris, France.
Article Synopsis
- Parkinson's disease leads to a decrease in dopamine function and an increase in iron in specific brain areas, particularly the substantia nigra, indicating potential interconnections between dopamine impairment and iron metabolism changes.
- A study followed patients with early Parkinson's and REM sleep behavior disorder, using advanced imaging techniques to track levels of neuromelanin, iron, and dopamine over two years.
- Results indicated that changes in dopamine levels occurred first in the sensorimotor regions, followed by alterations in iron metabolism and finally changes in neuromelanin, reflecting a typical progression pattern of the disease.
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
Nat Genet
June 2021
Center for Advanced Parkinson Research, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, USA.
Article Synopsis
- The study investigates how genetic factors affect the progression of Parkinson's disease (PD) to dementia, which significantly impacts patients' quality of life.
- A genome-wide survival analysis was conducted on 3,821 PD patients, uncovering RIMS2 as a key genetic locus linked to disease progression, along with suggestive evidence for TMEM108 and WWOX.
- While polygenic scores related to progression show a strong association with dementia risk, susceptibility scores do not predict outcomes, highlighting different genetic mechanisms for PD progression versus susceptibility.
Exploratory analysis of the genetics of impulse control disorders in Parkinson's disease using genetic risk scores.
Parkinsonism Relat Disord
May 2021
Paris Brain Institute, F-75013, Paris, France; Inserm, U 1127, F-75013, Paris, France; CNRS, UMR 7225, F-75013, Paris, France; Sorbonne Université, F-75013, Paris, France; Assistance Publique Hôpitaux de Paris, Department of Neurology, Centre d'Investigation Clinique Neurosciences, Hôpital Pitié-Salpêtrière, F-75013, Paris, France. Electronic address:
Objective: To study the association between impulse control disorders (ICDs) in Parkinson's disease (PD) and genetic risk scores (GRS) for 40 known or putative risk factors (e.g. depression, personality traits).
View Article and Find Full Text PDFFluoxetine for the Symptomatic Treatment of Multiple System Atrophy: The MSA-FLUO Trial.
Mov Disord
July 2021
Service de Neurologie des Maladies Neurodégénératives, French Reference Center for MSA, NS-Park/FCRIN Network, CHU Bordeaux, Bordeaux, France.
Background: There are no effective treatments for multiple system atrophy (MSA).
Objective: The objective of this study was to assess the efficacy and safety of the serotonin reuptake inhibitor fluoxetine (40 mg/d) for the symptomatic treatment of MSA.
Methods: This was a double-blind, parallel-group, placebo-controlled, randomized trial in patients with "probable" MSA.