A5019494160- Amyloidosis: Diagnosis, Treatment, Outcomes
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Acute Ischemic Stroke Management
- Peripheral Nerve Disorders
- Hereditary Neurological Disorders
- Cellular transport and secretion
- Intracerebral and Subarachnoid Hemorrhage Research
- Alzheimer's disease research and treatments
- Intracranial Aneurysms: Treatment and Complications
- Botulinum Toxin and Related Neurological Disorders
- Polyomavirus and related diseases
- Myasthenia Gravis and Thymoma
- Autoimmune Neurological Disorders and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cerebrovascular and Carotid Artery Diseases
- Systemic Lupus Erythematosus Research
- Venous Thromboembolism Diagnosis and Management
- Peptidase Inhibition and Analysis
- Cerebral Venous Sinus Thrombosis
- Systemic Sclerosis and Related Diseases
- Herpesvirus Infections and Treatments
- Cerebrovascular and genetic disorders
- Genetic Neurodegenerative Diseases
- Vasculitis and related conditions
University of Lausanne
2019-2025
University Hospital of Lausanne
2016-2025
Nerve Centre
2024
Deleted Institution
2022
McGill University
2022
University of Basel
2021
National Institutes of Health
2021
Centre d'Imagerie BioMedicale
2021
Hospital Base
2021
Hôpital Orthopédique de la Suisse Romande
2018-2021
Abstract We evaluated the effect of DMTs on Covid‐19 severity in patients with MS, a pooled‐analysis two large cohorts from Italy and France. The association baseline characteristics was assessed by multivariate ordinal‐logistic models pooled fixed‐effect meta‐analysis. 1066 MS 721 France were included. In model, anti‐CD20 therapies significantly associated (OR = 2.05, 95%CI 1.39–3.02, p < 0.001) severity, whereas interferon indicated decreased risk 0.42, 0.18–0.99, 0.047). This confirms...
The presence of demyelinated plaques in the central nervous system is hallmark multiple sclerosis (MS). Some remyelinate but others do not, leaving permanent damage. reasons for this failure repair are many, one possible reason lack migration oligodendrocyte precursor cells to lesion. guidance molecules Semaphorin 3A and 3F, already known direct oligodendroglial development, may also be active controlling cell MS, hence determine ability remyelinate. Here, MS tissue an experimental model...
Objective To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to Val30Met, Ser77Tyr, and Ile107Val mutations in France with classical Portuguese Val30Met FAP. Methods We compared 84 French patients a control group 110 carrying mutation also living France, all referred followed at National FAP Reference Center from 1988 2010. Clinical examination, functional walking disability scores, nerve conduction studies, muscle biopsies are reported. conducted...
In multiple sclerosis (MS), a subset of chronic active white matter lesions are identifiable on magnetic resonance imaging by their paramagnetic rims, and increasing evidence supports association with severity clinical disease. We studied potential role in differential diagnosis, screening an international multicenter research‐based sample 438 individuals affected different neurological conditions (MS, other inflammatory, infectious, non‐inflammatory conditions). Paramagnetic rim lesions,...
Background and purpose The aim of this study was to assess the effect Tafamidis, which slows progression early stages Met30 transthyretin ( TTR ) familial amyloidosis polyneuropathy FAP in more advanced cases. Methods a prospective, non‐randomized controlled trial carried out at French national reference centre for with follow‐up 1 year. Thirty‐seven consecutive Met30‐ ‐ patients were enrolled between December 2009 July 2011, NIS LL (Neuropathy Impairment Score‐lower limbs) > 10 Karnofsky...
<h3>Objective</h3> To assess whether chronic white matter inflammation in patients with multiple sclerosis (MS) as detected vivo by paramagnetic rim MRI lesions (PRLs) is associated higher serum neurofilament light chain (sNfL) levels, a marker of neuroaxonal damage. <h3>Methods</h3> In 118 MS no gadolinium-enhancing or recent relapses, we analyzed 3D-submillimeter phase and sNfL levels. Histopathologic evaluation was performed 25 from 20 additional autopsy cases. <h3>Results</h3>...
In malignant cerebral venous thrombosis (CVT) patients, emergency decompressive surgery has been suggested as a life-saving procedure. We report 12 patients with CVT, among whom 8 underwent operation.Retrospective study of from 3 stroke units who had CVT defined: (1) supratentorial cortical lesions attributable to superficial system or without sinus involvement; (2) clinical (decreased consciousness and dilated pupils) radiological signs transtentorial herniation; (3) either at onset after...
To clearly define transthyretin familial amyloid polyneuropathies (TTR-FAPs) fulfilling definite clinical and electrophysiologic European Federation of Neurological Societies/Peripheral Nerve Society criteria for chronic inflammatory demyelinating polyneuropathy (CIDP).From a cohort 194 patients with FAP, 13 84 (15%) French ancestry had late-onset TTR-FAP. We compared presentation electrophysiology to CIDP POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes)...
Small fiber neuropathy (SFN) is an important feature of transthyretin familial amyloid polyneuropathy (TTR-FAP). A practical and objective method for the clinical evaluation SFN needed to improve management this disease. In vivo confocal microscopy (IVCM) corneal nerves, a rapid noninvasive technique, may be used as surrogate marker SFN.To determine correlation with IVCM in patients TTR-FAP.A prospective, single-center, cross-sectional controlled study was conducted at French National...
Background: The central vein sign (CVS) has been shown to help in the differential diagnosis of multiple sclerosis (MS), but most prior studies are retrospective. Objectives: To prospectively assess diagnostic predictive value CVS diagnostically difficult cases. Methods: In this prospective multicenter study, 51 patients with suspected MS who had clinical, imaging, or laboratory “red flags” (i.e. features atypical for MS) underwent 3T fluid-attenuated inversion recovery (FLAIR*) magnetic...
<h3>Background and Objective</h3> Depleting CD20<sup>+</sup> B cells is the primary mechanism by which ocrelizumab (OCRE) efficient in persons with multiple sclerosis (pwMS). However, exact role of OCRE on other immune cell subsets directly or indirectly remains elusive. The purpose this study to characterize dynamics peripheral pwMS OCRE. <h3>Methods</h3> We collected blood samples from 38 before onset (T0) at 6 12 months (T6, T12) after initiation. To cover diversity, using mass cytometry...
To report clinical characteristics, angiographical findings and results of endovascular treatment patients presenting with dural carotid-cavernous fistulas (DCCFs).Retrospective analysis 27 consecutive DCCF referred to a specialised interventional neuroradiology department.Orbital neuro-ophthalmological symptoms were the most common presentation at diagnosis (n = 25). The venous drainage fistula involved ipsilateral superior ophthalmic vein in 24 patients, contralateral cavernous sinus 6...
Familial amyloidosis with polyneuropathy (FAP) in France have a large genetic heterogeneity 29 transthyretin (TTR) gene mutations; Met30-TTR is the most frequent one (62%); followed by Tyr77-TTR (11.8%) and Phe77-TTR (6.2%). Analysis of 60 FAP patients diagnosed during period 2008-2010 showed amyloid was initially suspected only 38% patients. TTR Met30 Portuguese ancestry different from non other variants geographical distribution clinical presentation. There are three additional phenotypes...
In multiple sclerosis (MS), the presence of a paramagnetic rim at edge non-gadolinium-enhancing lesions indicates perilesional chronic inflammation. Patients featuring higher lesion burden tend to have more aggressive disease. The objective this study was develop and evaluate convolutional neural network (CNN) architecture (RimNet) for automated detection in MS employing magnetic resonance (MR) imaging contrasts. Imaging data were acquired 3 Tesla on three different scanners from two...
In 2024, therapeutic and diagnostic advancements are shaping the field of neurology. Three new drugs show promise for treating myasthenia gravis chronic inflammatory demyelinating polyneuropathy. A classification Parkinson's disease has been proposed, while a neuroprosthesis is improving gait in advanced stages. Revised criteria inclusion body myositis multiple sclerosis refining diagnoses, blood biomarkers enabling early detection Alzheimer's disease. The effectiveness thrombolysis stroke...
There is a high prevalence of depressive and anxiety disorders in multiple sclerosis (MS), disease 2.5 times more frequent females. Contrary to the general population, whom studies have demonstrated higher rates depression females, little known about impact gender on psychiatric sequelae MS patients.We conducted retrospective study try clarify this uncertainty.Demographic, illness-related behavioral variables were obtained from neuropsychiatric database 896 patients with confirmed diagnosis...
Objective: Familial amyloid polyneuropathy (FAP) is typically a predominantly sensory and autonomic neuropathy with progressive late motor involvement leading to death within 10 years. Recently, prognosis was transformed liver transplantation.
The central vein sign (CVS) is an imaging biomarker able to differentiate multiple sclerosis (MS) from other conditions causing similar appearance lesions on magnetic resonance (MRI), including cerebral small vessel disease (CSVD). However, the impact of vascular risk factors (VRFs) for CSVD percentage CVS positive (CVS+) in MS has never been evaluated.To investigate association between different VRFs and CVS+ MS.In 50 patients, 3T brain MRIs (including high-resolution 3-dimensional...
Hereditary transthyretin-related (hATTR) amyloidosis is a rare disease, causing disabling and life-threatening axonal length-dependent polyneuropathy. Monitoring of disease progression treatment response difficult. We aimed to determine if serum neurofilament light chain (sNfL) reliable early biomarker peripheral neuropathy in hATTR amyloidosis. prospectively included 20 patients, 14 symptomatic 6 asymptomatic. Patients were assessed at baseline 1 year, including full clinical examination...
Background and purpose The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset. Methods French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation 32 consecutive patients onset the (study group) they were compared 31 Portuguese early‐onset 99 late‐onset without Results Initial symptoms mostly sensory. Lower began 2.3 ± 3 years after symptoms. Twenty‐four (75%) initially misdiagnosed, 15 different diagnoses. More in...