A5111478290- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Multiple Sclerosis Research Studies
- Genetic Neurodegenerative Diseases
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Neurological diseases and metabolism
- Multiple Myeloma Research and Treatments
- Mitochondrial Function and Pathology
- Restless Legs Syndrome Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cancer Treatment and Pharmacology
- RNA modifications and cancer
- Cholesterol and Lipid Metabolism
- Congenital Anomalies and Fetal Surgery
- Long-Term Effects of COVID-19
- Botulinum Toxin and Related Neurological Disorders
- Dermatological and Skeletal Disorders
- Myasthenia Gravis and Thymoma
- CNS Lymphoma Diagnosis and Treatment
- Peripheral Nerve Disorders
- Cell Adhesion Molecules Research
Sorbonne Université
2016-2025
Institut du Cerveau
2024-2025
Inserm
2020-2025
Pitié-Salpêtrière Hospital
2016-2025
Centre National de la Recherche Scientifique
2019-2024
Assistance Publique – Hôpitaux de Paris
2012-2024
Institut de Psychiatrie et Neurosciences de Paris
2024
Institut Pierre Louis d‘Épidémiologie et de Santé Publique
2022
Observatoire de la Côte d’Azur
2022
Hôpital Pasteur
2022
<h3>Objective</h3> To report the first 2 European cases of biotin-responsive basal ganglia disease and novel<i>SLC19A3</i>mutations. <h3>Design</h3> Case reports. <h3>Setting</h3> University hospital. <h3>Patients</h3> A 33-year-old man his 29-year-old sister, both Portuguese ancestry, presented with recurrent episodes encephalopathy. Between patients exhibited generalized dystonia, epilepsy, bilateral hyperintensities caudate putamen. <h3>Main Outcome Measures</h3> Clinical radiologic...
Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation spinal pathology adult forms SMA using multimodal quantitative imaging. Twenty-five patients 25 age-matched healthy controls were enrolled a cord brain imaging study. Structural measures grey white matter diffusion parameters integrity...
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers needed to guide genetic testing paraplegia. Spastic paraplegia type 5 (SPG5) is autosomal recessive due mutations CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated cholesterol bile acids metabolism. We developed method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry validate two plasma...
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection expansion challenging and can be associated with atypical features. We clinically genetically characterized 50 patients, selected based on the presence neuronopathy confirmed EMG. screened PCR, repeat-primed Southern blotting long-range PCR products, newly developed method. Neuropathological characterization was performed brain spinal cord one patient. Most patients (88%) carried (AAGGG)n...
Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons, with typical lifespan of 3–5 years. Altered metabolism key feature ALS that strongly influences prognosis, an increase in whole body energy expenditure and changes skeletal muscle metabolism, including greater reliance on fat oxidation. Dyslipidaemia has been described as part the metabolic dysregulation, but its role pathophysiology disease remains controversial. Among lipids,...
We aimed to analyse the response rituximab in a cohort of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients with associated disorders. conducted clinical and electrophysiological retrospective monocentric study 28 CIDP patients. Response was defined as (a) five-point increase Medical Research Council sum score or one-point decrease Overall Neuropathy Limitations Scale score, compared at first infusion, (b) discontinuation of, reduced need for, last treatments before...
ABSTRACT Human T lymphotropic virus type 1 (HTLV-1) chronic infection is maintained through mitotic proliferation of the infected CD4+ cells, where viral genome integrated as a provirus in its host genome. HTLV-1 integration sites (ISs) have part HTLV-1-associated pathologies, with distinct IS patterns associated malignant or inflammatory diseases. However, determination remains challenging because most assays rely on complex biological and biocomputing protocols. We present an assay that...
Key points Amyotrophic lateral sclerosis (ALS) motoneurons become hypoexcitable with disease progression in experimental models, raising questions about the neural hyperexcitability supported by clinical observations. A variant of ∆ F method, based on motor unit discharge frequency modulations during recruitment and derecruitment, has been developed to investigate motoneuron capacity self‐sustained patients. The modulation firing rate ramp contraction vibration‐induced are modified ALS,...
<h3>Objective</h3> To perform a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in adult-onset Krabbe disease. <h3>Methods</h3> We retrospectively collected basic clinical data the first available from patients with confirmed disease manifestations beyond 10 years age. Data were obtained our reference center for lysosomal diseases (n = 6) contacted authors published articles describing 15). T2-weighted fluid-attenuated inversion recovery images each patient...
<h3>Importance</h3> Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (<i>APTX</i>) that characterized by early-onset ataxia, apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels. <h3>Objectives</h3> To improve clinical, biomarker, molecular delineation AOA1 provide genotype-phenotype correlations. <h3>Design, Setting, Participants</h3> This retrospective analysis included biological...
Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is treated with intravenous immunoglobulins (IVIg), corticosteroids or plasma exchange (PE). IVIg dosage not universal and markers for treatment management are needed. Methods: We report the response to high-dose fractioned in a subgroup of definite CIDP patients, resistant PE, responders but an efficacy window <15 d. Results: Four patients were included similar predominantly clinical motor form conduction abnormalities....
Abstract Motor chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare and poorly described subtype of CIDP. We aimed to study their clinical electrophysiological characteristics response treatment. From prospective database CIDP patients, we included patients with definite or probable motor signs without sensory signs/symptoms at diagnosis. Patients were considered have pure (PM‐CIDP) if conductions normal predominant (MPred‐CIDP) ≥2 nerve action potential amplitudes abnormal....
Abstract Due to the expanding use of non-invasive ventilation (NIV) in amyotrophic lateral sclerosis (ALS), question enteral nutrition is increasingly raised NIV users ALS patients. Here, we aimed determine prognostic factors for survival after gastrostomy placement routine users, taking into consideration ventilator dependence. Ninety-two patients, who underwent insertion severe dysphagia and/or weight loss, were included. We used a Cox proportional hazards model identify affecting and...
Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications COVID-19. The objective this study was analyze the prevalence COVID-19 among NMD and factors for its impact severity during first wave pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 May 11, in an anonymous survey carried out by expert physicians French Health Care Network Filnemus.Physicians reported 84 including: 34...
Neurolymphomatosis is defined as an infiltration of the peripheral nervous system (PNS) by malignant lymphoma cells. It a rare entity and diagnosis complicated especially when PNS involvement initial leading symptom. To improve knowledge disorder shorten time to diagnosis, we report series nine patients without history hematologic malignancy, who were diagnosed with neurolymphomatosis after evaluation workup neuropathy.The included from Department Clinical Neurophysiology at Pitié...
Background and purpose Whether the Lewis–Sumner syndrome (L‐SS) is a distinct entity from other types of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP‐ot) remains controversial. Method The clinical/electrophysiological characteristics long‐term outcomes 45 L‐SS 35 CIDP‐ot patients were retrospectively compared. Results group was composed 11 with typical CIDP, 17 pure sensory form, four distal form three motor form. In group, asymmetric ( P < 0.001) monomelic involvement...
Natalizumab (NZ), a humanized anti-α4 integrin monoclonal antibody, is used in the treatment of highly active multiple sclerosis (MS). Progressive multifocal leukoencephalopathy (PML) and rare cases primary CNS lymphoma1 have been reported NZ-treated patients, whereas severe relapses with MS reactivation are described after NZ discontinuation.
The manifestations of borreliosis in the peripheral nervous system (PNS) remain poorly described. As symptoms neuroborreliosis can be reversed with timely introduction antibiotics, early identification could avoid unnecessary axonal loss. Our aim was to describe characteristics confirmed cases involving PNS diagnosed between 2007 and 2017 our neuromuscular disease center a nonendemic area (La Pitié-Salpêtrière Hospital, Paris, France).Neuroborreliosis defined as follows: compatible...
Focal chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is defined as involving the brachial or lumbosacral plexus, one more peripheral nerves in upper lower limb (monomelic distribution). However, other auto-immune neuropathies such Lewis-Sumner syndrome (LSS) and multifocal motor neuropathy (MMN) can also have a focal onset. From retrospective cohort of 30 CIDP patients with monomelic onset dating back at least 2 years, we distinguished plexus involvement (focal [F-PN], n =...