A5039821331- Pleistocene-Era Hominins and Archaeology
- Dementia and Cognitive Impairment Research
- Archaeological and Geological Studies
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Ancient and Medieval Archaeology Studies
- Archaeological and Historical Studies
- Archaeology and ancient environmental studies
- Neurology and Historical Studies
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Drug-Induced Ocular Toxicity
- Cerebrovascular and genetic disorders
- Brain Tumor Detection and Classification
- Fungal Infections and Studies
- Geological and Geophysical Studies Worldwide
- Epilepsy research and treatment
- Autoimmune Neurological Disorders and Treatments
- Neurobiology of Language and Bilingualism
- Long-Term Effects of COVID-19
- Psychoanalysis and Psychopathology Research
- Health, Medicine and Society
- Telemedicine and Telehealth Implementation
- Amino Acid Enzymes and Metabolism
Centre Hospitalier du Rouvray
2023-2025
University of Trento
2025
The University of Melbourne
2025
Université de Lille
2025
The Royal Melbourne Hospital
2025
Université du Québec à Montréal
2023-2025
Université de Rouen Normandie
2021-2024
Inserm
2017-2024
Centre Hospitalier Universitaire de Rouen
2021-2024
Normandie Université
2024
To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and moderate-to-strong risk factors patients with Alzheimer disease (AD). We included 700 a prospective study performed exome sequencing. A panel of 28 6 risk-factor was interpreted returned to patients. built framework for variant interpretation gradation assessed detection among early-onset AD (EOAD, age onset (AOO) ≤65 years, n = 608) depending on AOO pedigree structure late-onset (66 < 75, 92)....
To determine relative frequencies and linguistic profiles of primary progressive aphasia (PPA) variants associated with GRN (progranulin) mutations to study their neuroanatomic correlates.Patients PPA carrying (PPA-GRN) were selected among a national prospective research cohort 1,696 patients frontotemporal dementia, including 235 PPA. All amyloid-positive CSF biomarkers excluded. In this cross-sectional study, speech/language cognitive characterized standardized evaluations, gray matter...
Muckle-Wells syndrome (MWS) and familial cold autoinflammatory (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) was also recently mutation in same gene. phenotypic genotypic continuum seems to exist from most benign severe forms (CINCA). Although a can be two different phenotypes.We report family of three patients exhibiting MWS FCAS phenotypes. These phenotypes were novel missense CIAS1.Anakinra...
Previous studies have reported misdiagnosis rates of nondegenerative primary psychiatric disorders up to 50% among patients with behavioral variant frontotemporal dementia (bvFTD). The authors hypothesized that decreased over time because an increased awareness and a better understanding prodromes FTD. Retrospective data on past trajectories individuals probable or definite bvFTD (N=609) were acquired from 12 sites the Neuropsychiatric International Consortium Symptom profiles, disorder...
BACKGROUND:Automated volumetry software (AVS) has recently become widely available to neuroradiologists. MRI with AVS may support the diagnosis of dementias by identifying regional atrophy. Moreover, automatic classifiers using machine learning techniques have emerged as promising approaches assist diagnosis. However, performance both and been evaluated mostly in artificial setting research datasets.OBJECTIVE:Our aim was evaluate two an classifier clinical routine condition a memory...
Une carte des principales formations à silex du sud de la France est en cours réalisation. Elle propose, tous les préhistoriens, une base nécessaire au développement d'études interrégionales sur circulation silex. le fruit d'une collaboration entre acteurs impliqués dans problématique caractérisation provenance regroupe résultats leurs prospections systématiques ou ciblées six régions (Aquitaine, Auvergne, Languedoc-Roussillon, Midi-Pyrénées, Provence-Alpes-Côte-d'Azur, Rhône-Alpes)....
Abstract Objective Epilepsy is highly prevalent in onchocerciasis‐endemic African regions. Various types of epilepsy have been described such regions based essentially on clinical characteristics. Methods We conducted a clinical, neurophysiological and neuropsychological study the region Ntui, Sanaga‐Mbam area, Cameroon. Results One hundred eighty‐seven persons with presumed were recruited an clinic Ntui. was clinically confirmed 144 (79%) subjects, 69 (46.0%) them met...
Myotonic dystrophy type 1 is an autosomal dominant multisystemic disorder affecting muscular and extra systems, including the central nervous system. Cerebral involvement in myotonic associated with subtle cognitive behavioural disorders, of major impact on socio-professional adaptation. The social dysfunction its potential relation to frontal lobe neuropsychology remain under-evaluated this pathology. neuroanatomical network underpinning that yet disentangle. Twenty-eight adult patients...
Background Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a limbic that rarely presents as an isolated psychiatric syndrome. Case presentation A 70-year-old patient first presented with behavioral disorder including hyperactivity, euphoria, disinhibition and accelerated speech associated severe insomnia cognitive disorder. manic episode was diagnosed he received various psychotropic medications no improvement. Invesitgations were negative (MRI showed T2 aspecific...
Abstract Objectives To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning. Methods We retrospectively reviewed medical charts of NP-C-patients followed in the Lysosomal Diseases reference center Paris Pitié-Salpêtrière. collected demographic data, psychiatric clinical manifestations, psychometric scales, extended neuropsychological data including executive functions evaluations. Results Nineteen patients were...
Abstract We report the case of a patient suffering from cortical blindness following bilateral occipital stroke, who recovered normal vision in his right visual field injection local anesthetic mepivacaïne. The effect was transient but reproducible, allowing to lead life. Effect duration increased after adjunction paroxetine. provide anatomical and functional brain imaging correlates this improvement, showing particularly how connectivity is restored between intact perilesional cortex...
This multicenter study was conducted in French memory clinics during the first COVID-2019 lockdown (March–May 2020). The objective to evaluate effect of a telemedicine consultation on treatment modification dementia care. Among 874 patients who had consultation, 103 (10.7%) modifications, particular those living with relative or diagnosed Alzheimer’s disease. A control group referred March–May 2019 also included. Treatment rate similar between periods an adjusted percentage difference –4% (p...
Des gravures réalisées sur une paroi rocheuse viennent d'être récemment authentifiées dans les Préalpes du Sud (Chastel-Arnaud, Drôme, France). Un premier relevé a permis de distinguer série poignards et d'autres motifs encore mal identifiés. Pour poignards, premières comparaisons renvoient aux productions la culture Remedello, en Italie Nord, dont traces sont rarissimes Alpes françaises. descriptif des réflexion leurs implications le Néolithique final régional proposés. Par biais certaines...
Une carte des principales formations à silex du sud de la France est en cours réalisation. Elle propose, tous les préhistoriens, une base nécessaire au développement d'études interrégionales sur circulation silex. le fruit d'une collaboration entre acteurs impliqués dans problématique caractérisation provenance regroupe résultats leurs prospections systématiques ou ciblées six régions (Aquitaine, Auvergne, Languedoc-Roussillon, Midi-Pyrénées, Provence-Alpes-Côte-d'Azur, Rhône-Alpes)....
Abstract Rare coding single nucleotide variants (SNV) and short insertions or deletions (indels) contribute to Alzheimer disease (AD) genetic risk, from pathogenic in autosomal dominant genes risk factors with diverse effects. In contrast, copy number (CNV) have been scarcely studied, the exception of a few examples, such as APP gene duplications. We took advantage large case-control dataset 22,319 exomes (4,150 early-onset AD (EOAD, onset ≤65 years), 8,519 late (LOAD) 9,650 controls) detect...