A5065348790- Migraine and Headache Studies
- Intracerebral and Subarachnoid Hemorrhage Research
- Cerebrovascular and genetic disorders
- Acute Ischemic Stroke Management
- Neurosurgical Procedures and Complications
- Alzheimer's disease research and treatments
- Trigeminal Neuralgia and Treatments
- Neurological Complications and Syndromes
- Ophthalmology and Eye Disorders
- Moyamoya disease diagnosis and treatment
- Connective tissue disorders research
- Neurological diseases and metabolism
- Cerebrospinal fluid and hydrocephalus
- Thyroid and Parathyroid Surgery
- Cerebral Venous Sinus Thrombosis
- Intracranial Aneurysms: Treatment and Complications
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Medical Imaging and Pathology Studies
- Spinal Dysraphism and Malformations
- Cerebrovascular and Carotid Artery Diseases
- Pancreatitis Pathology and Treatment
- Botulinum Toxin and Related Neurological Disorders
- Prion Diseases and Protein Misfolding
- Sympathectomy and Hyperhidrosis Treatments
- Meningioma and schwannoma management
Université de Rouen Normandie
2016-2025
Centre Hospitalier Universitaire de Rouen
2016-2024
Sorbonne Université
2024
Centre Hospitalier Universitaire de Tours
2024
Assistance Publique – Hôpitaux de Paris
2021-2024
Inserm
2017-2023
Normandie Université
2017-2022
National Hospital for Neurology and Neurosurgery
2020-2022
University College London
2020-2022
Hudson Institute
2021
Cerebral amyloid angiopathy-related inflammation (CAA-RI) and biopsy-positive primary angiitis of the CNS (BP-PACNS) have overlapping clinicoradiologic presentations. It is unknown whether clinical radiologic features can differentiate CAA-RI from BP-PACNS both diseases different relapse rates. The objectives this study were to compare presentations rates in patients with vs BP-PACNS.
Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations the MYORG gene have been reported to PFBC an recessive pattern of inheritance. We screened 29 unrelated probands negatively for identified 11 families or novel predicted damaging variant. studied clinical radiological features 16 patients these compared them...
This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways.We carried out a genome-wide association study, where 852 UK 591 Swedish cases were compared with 5,614 1,134 controls, respectively. Following quality control imputation, single variant testing conducted using logistic mixed model each cohort. The 2 cohorts subsequently combined in merged analysis. Downstream analyses, such as gene-set enrichment, functional...
<h3>Background</h3> Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part internal carotid arteries and development abnormal collateral deep vessels. Its pathophysiology unknown. MMA can be sole manifestation disease (moyamoya disease) or associated with various conditions syndrome) including some Mendelian diseases. We aimed to investigate genetic basis moyamoya using whole exome sequencing (WES) approach conducted in sporadic cases without any overt...
Background and Purpose Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy outside of Asia. In Japanese patients, vast majority patients carry the founder p.R4810K variant in RNF213 gene, familial cases are around 10%. European data about occurrence limited. The aim this study was to characterize clinical molecular features several families with parent-to-child transmission MMA. Methods Out 126 MMA probands referred, we identified 113 sporadic 13 probands. Segregation analysis showed...
To report a triplication of the amyloid-β precursor protein (APP) locus along with relative messenger RNA (mRNA) expression in family autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).Four copies APP gene were identified by quantitative multiplex PCR short fluorescent fragments, situ hybridization (FISH), array comparative genomic hybridization. mRNA levels assessed using reverse-transcription-digital droplet proband's whole blood compared 10...
There is no consensus regarding the diagnostic value of cerebrospinal fluid (CSF) Alzheimer's disease (AD) biomarkers in cerebral amyloid angiopathy (CAA).To describe CSF levels Aβ 42, 40, total protein Tau, and phosphorylated-Tau (p-Tau) a large series probable CAA patients to compare with AD order identify specific pattern but also look for correlations neuroimaging profile.We retrospectively included from 2 French centers according modified Boston criteria who underwent lumbar puncture...
APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes duplications carriers.Clinical, radiological, neuropathological features 43 carriers from 24 French families were retrospectively analyzed, MRI cerebrospinal fluid (CSF) biomarkers compared 40 APP-negative CAA controls.Major neurocognitive disorders found in 90.2% symptomatic carriers, with prominent behavioral impairment 9.7%. Symptomatic intracerebral...
Total Tau concentration in cerebrospinal fluid (CSF) is widely used as a biomarker the diagnosis of neurodegenerative process primarily Alzheimer's disease (AD). A particularly high level may indicate AD but also be associated with Creutzfeldt-Jakob (CJD). In such situations little known about distribution differential diagnoses.Our study aimed to describe different diagnoses encountered clinical practice for patients dementia and CSF levels over 1000 pg/ml. We studied p-Tau/Tau ratio...
Cluster headache is characterized by recurrent, unilateral attacks of excruciating pain associated with ipsilateral cranial autonomic symptoms. Although a wide array clinical, anatomical, physiological, and genetic data have informed multiple theories about the underlying pathophysiology, lack comprehensive mechanistic understanding has inhibited, on one hand, development new treatments and, other, identification features predictive response to established ones. The first-line drug,...
To define the characteristics of post-traumatic headache with cluster phenotype (PTH-CH) and to compare these primary CH.A retrospective study was conducted patients seen between 2007 2017 in a centre diagnosed PTH-CH that developed within 7 days head trauma. A control cohort included 553 CH without any history trauma who attended clinic during same period. Data including demographics, attack response treatments were recorded.Twenty-six identified. Multivariate analysis revealed significant...
To determine the prevalence and clinical predictors of pituitary adenomas in cluster headache patients, order to necessity performing dedicated magnetic resonance imaging patients with headache.A retrospective study was conducted all consecutive diagnosed available brain between 2007 2017 a tertiary center. Data including demographics, attack characteristics, response treatments, results neuroimaging, routine function tests were recorded.Seven hundred eighteen attended clinic; 643 underwent...