A5045746050- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Neurological disorders and treatments
- Dementia and Cognitive Impairment Research
- Neurological diseases and metabolism
- Estrogen and related hormone effects
- Receptor Mechanisms and Signaling
- Retinoids in leukemia and cellular processes
- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Neurological Disorders and Treatments
- Ion channel regulation and function
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Nuclear Receptors and Signaling
- S100 Proteins and Annexins
- DNA Repair Mechanisms
- Cellular transport and secretion
- Ginkgo biloba and Cashew Applications
- Cardiac electrophysiology and arrhythmias
Université de Lille
2014-2024
Inserm
2014-2024
Centre Hospitalier Universitaire de Lille
2014-2024
Lille Neurosciences & Cognition
2021-2024
Centre de Recherche Jean Pierre Aubert
2011-2023
Centre Hospitalier Universitaire de Nantes
2022
Institut de Biologie de Lille
2005-2020
Institut pour la Recherche sur le Cancer de Lille
2019
Centre Hospitalier Universitaire de Besançon
2019
Hôpital Roger Salengro
1998-2018
Aims: The pathophysiological role of iron in Parkinson's disease (PD) was assessed by a chelation strategy aimed at reducing oxidative damage associated with regional deposition without affecting circulating metals. Translational cell and animal models provided concept proofs delayed-start (DS) treatment paradigm, the basis for preliminary clinical assessments. Results: For translational studies, we effect insults mice systemically prechelated deferiprone (DFP) following motor functions,...
Background Fatal lactic acidosis is a serious complication of therapy with nucleoside analogues. Objective To examine symptomatic hyperlactataemia in HIV-infected adults treated antiretroviral drugs. Methods In this prospective study, arterial blood lactate levels were measured patients presenting unexplained clinical symptoms. When these high, functional respiratory tests (FRT) carried out. Liver or muscle biopsies further proposed. Incidences calculated by comparison the entire cohort...
The cerebrospinal fluid (CSF) biomarkers amyloid-β (Aβ), tau and phosphorylated (p-tau181) are now used for the diagnosis of Alzheimer's disease (AD). Aβ40 is most abundant Aβ peptide isoform in CSF, 42/40 ratio has been proposed to better reflect brain amyloid production. However, its additional value clinical setting remains uncertain.A total 367 subjects with cognitive disorders who underwent a lumbar puncture were prospectively included at three French memory centers (Paris-North, Lille...
Growing body of evidence suggests that Parkinson's disease (PD) is associated with oxidative damage via iron accumulation in the substantia nigra (SN). Low ceruloplasmin (CP)-ferroxidase activity has been identified SN and cerebrospinal fluid (CSF) patients PD. The chelator, deferiprone, reduces abnormally high levels SN. In order to determine CP's involvement PD progression, we aim compare ability chelation treatment reducing both motor handicap according level activity. We used a moderate...
The microtubule-associated protein Tau is mainly expressed in neurons of the CNS and crucial axonal maintenance transport. rationale for as a biomarker neurodegenerative diseases that it major component abnormal intraneuronal aggregates observed numerous tauopathies, including Alzheimer's disease. molecular diversity very useful when analyzing brain or peripheral fluids. Immunohistochemical biochemical characterization allows postmortem classification differential diagnosis tauopathies. As...
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...
Muscleblind-like-1 (MBNL1) is a splicing regulatory factor controlling the fetal-to-adult alternative transitions during vertebrate muscle development. Its capture by nuclear CUG expansions one major cause for type 1 myotonic dystrophy (DM1). Alternative produces MBNL1 isoforms that differ presence or absence of exonic regions 3, 5, and 7. To understand better their respective roles consequences deregulation expression in DM1, here we studied constitutive exons. By combining genetics,...
The objective of this study was to analyze differences in biomarker outcomes before and after harmonization cerebrospinal fluid (CSF) collection tubes Alzheimer's disease (AD) diagnosis.We analyzed data from French memory centers that switched different CSF a common one. A total 1966 patients were included the study. concentrations β-amyloid 1-42 (Aβ42), tau, phosphorylated tau (p-tau181) measured each center using same commercial enzyme-linked immunoabsorbent assay (ELISA) kits. diagnostic...
<h3>Background</h3> Given that memantine is thought to decrease N-methyl-D-aspartic-acid-related (NMDA) glutamatergic hyperactivity and improve locomotion in rats, we sought assess the drug9s impact on axial symptoms advanced Parkinson9s disease (PD). <h3>Methods</h3> We performed a 90-day, randomised, double-blind, study with two parallel arms: 20 mg/day versus placebo (ClinicalTrials.gov:NCT01108029). The main inclusion criterion was presence of severe gait disorder an abnormal,...
<h3>Objective:</h3> To describe a cluster of progressive supranuclear palsy (PSP) in northern France. PSP has not been reported geographical, temporal, or occupational clusters. A unit Neurology and Neurogeriatrics opened 2005 at the Centre Hospitalier de Wattrelos, serving population Wattrelos Leers (combined 51,551) parts neighboring towns. For most 20th century, this area was center for chromate phosphate ore processing, textile dyeing, tanning. Significant industrial waste persists close...
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report identification causative gene in spinocerebellar 21, an autosomal-dominant disorder previously mapped chromosome 7p21.3-p15.1. This was firstly characterized large French family with slowly progressive ataxia, accompanied by severe cognitive impairment mental retardation two young children. Following...
After more than 50 years of treating Parkinson's disease with l-DOPA, there are still no guidelines on setting the optimal dose for a given patient. The dopamine transporter type 1, now known as solute carrier family 6 (neurotransmitter transporter), member 3 (SLC6A3) is most powerful determinant neurotransmission and might therefore influence treatment response. We recently demonstrated that methylphenidate (a inhibitor) effective in patients motor gait disorders. objective present study...
To identify the genetic cause in 2 Belgian families with autosomal recessive Huntington-like disorder (HDL).Homozygosity mapping and whole-exome sequencing a consanguineous family as well Sanger of candidate gene an independent HDL followed by genotype-phenotype correlation studies.We identified homozygous mutation RNF216 p.(Gly456Glu) within shared 4.8-Mb region at 7p22.3 affected siblings family. In family, were compound heterozygous for mutations p.(Gln302*) p.(Tyr539Cys). Chorea,...
Background: The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. mutations for SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, and SCA-12 identified caused by an expansion CAG or CTG repeat sequence these genes. Six additional loci SCA4, SCA5, SCA-10, SCA-11, SCA-13, SCA-14 mapped. growing heterogeneity the forms diseases shows that genetic etiologies at least 20% ADCA have yet to be elucidated.
Abstract We investigated a French family with new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited slowly progressive gait limb variably associated akinesia, rigidity, tremor, hyporeflexia. A mild cognitive impairment also observed in some cases. performed genomewide search found significant evidence for linkage to chromosome 7p21.3‐p15.1. Analysis key recombinants haplotype reconstruction traced this...
Abstract Benign hereditary chorea is a rare autosomal dominant disorder presenting with childhood‐onset and slowly progressive chorea. The objective of this study was to describe the clinical genetic features 3 patients who developed Three affected from three generations family benign associated multisystemic basal ganglia, thyroid, lungs, salivary glands, bowels, teeth. TITF‐1 gene screened by microsatellite analysis, sequencing, fluorescence in situ hybridization. Genetic analysis revealed...
The relevance of the cerebrospinal fluid (CSF) biomarkers for diagnosis Alzheimer's disease (AD) and related disorders is clearly established. However, question remains on how to use these data, which are often heterogeneous (not all being pathologic). objective this study propose physicians in memory clinics a biologic scale probabilities that patient with cognitive impairments has an pathologic process.For purpose, we took advantage multicenter data our Paris-North, Lille, Montpellier...
Abstract The pathomechanisms that associate a deficit in folate and/or vitamin B12 and the subsequent hyperhomocysteinemia with pathological brain ageing are unclear. We investigated homocysteinylation of microtubule‐associated proteins (MAPs) brains patients Alzheimer's disease or vascular dementia, rats depleted B12, Cd320 KO mice selective deficiency H19‐7 neuroprogenitors lacking folate. Compared controls, N‐homocysteinylated tau MAP1 were increased accumulated protein aggregates tangles...
Abstract Altered splicing of transcripts, including the insulin receptor (IR) and cardiac troponin (cTNT), is a key feature myotonic dystrophy type I (DM1). CELF MBNL factor members regulate those transcripts. We have previously described an alteration Tau exon 2 in DM1 brain, resulting favored exclusion 2. However, factors required for alternative remain undetermined. Here we report decreased expression family member transcripts brains as assessed by RT‐PCR. By using cellular models with...