A5051598991- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Parathyroid Disorders and Treatments
- Cellular Mechanics and Interactions
- RNA Research and Splicing
- Toxin Mechanisms and Immunotoxins
- Peripheral Neuropathies and Disorders
- Genomic variations and chromosomal abnormalities
- Erythrocyte Function and Pathophysiology
- Connexins and lens biology
- Botulinum Toxin and Related Neurological Disorders
- Endoplasmic Reticulum Stress and Disease
- Biomedical Research and Pathophysiology
- Neurogenetic and Muscular Disorders Research
- Signaling Pathways in Disease
- Respiratory and Cough-Related Research
- Genomics and Rare Diseases
- Ion Transport and Channel Regulation
- Cellular transport and secretion
- Amino Acid Enzymes and Metabolism
- Genomics and Chromatin Dynamics
- Skin and Cellular Biology Research
Université de Limoges
2009-2025
Centre Hospitalier Universitaire de Limoges
2008-2023
Hôpital Universitaire Dupuytren
2012-2022
Hôpital Dupuytren
2005-2022
Laboratoire de Biochimie
2019
Hôpital Pellegrin
2018
Établissement Français du Sang
2013
Anzac Research Institute
2008
Children's Hospital at Westmead
2008
Concord Repatriation General Hospital
2008
<h3>Background</h3> Mutations in the gene encoding mitofusin 2 (<i>MFN2</i>) cause Charcot-Marie-Tooth disease type (CMT2), with heterogeneity concerning severity and associated clinical features. <h3>Objective</h3> To describe<i>MFN2</i>mutations phenotypes patients hereditary motor sensory neuropathy (HMSN). <h3>Design</h3> Direct sequencing of the<i>MFN2</i>gene investigations with<i>MFN2</i>mutations. <h3>Setting</h3> Molecular genetics laboratory a university hospital Limoges National...
<b>Objective: </b> Severe early-onset axonal neuropathy (SEOAN) is a heterogeneous phenotype first delineated by Ouvrier et al., characterized progressive degeneration with gait problems often progressing to wheelchair requirement and later respiratory involvement. Most cases are sporadic single cases. Some have heterozygous <i>mitofusin 2</i> (<i>MFN2</i>) mutations, many of which de novo dominant mutations. The aim this study was investigate the mode inheritance in three individuals severe...
Neonatal primary hyperparathyroidism (NPHT) is associated with an inactivating homozygous mutation of the calcium sensing receptor (CaSR). The CaSR expressed most abundantly in parathyroid glands and kidney regulates homeostasis through its ability to modulate parathormone secretion renal reabsorption. NPHT leads life threatening hypercalcemia, nephrocalcinosis, bone demineralization, neurologic disabilities. Surgery treatment choice. While waiting for surgery, bisphosphonates offer a good...
Neuropathologic abnormalities can be sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA. We analyzed morphologic features 9 sural nerve biopsies from 6 patients mitofusin 2. All presented early childhood axonal designated mild or severe motor sensory neuropathy. In all cases, there was a marked decrease density myelinated fibers, mainly large diameter fibers....
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) gene have been with demyelinating and axonal forms of Charcot-Marie-Tooth (CMT) disease, most frequent hereditary peripheral neuropathy humans. Previous studies reported prevalent GDAP1 expression neural tissues cells, from animal models. Here, we described first functional study on human induced-pluripotent stem cells (hiPSCs)-derived motor neurons, obtained normal subjects a CMT2H patient, carrying homozygous...
Abstract The calcium sensing receptor (CASR) is expressed most abundantly in the parathyroid glands and kidney. CASR regulates homeostasis through its ability to modulate parathormone secretion renal reabsorption. Inactivating mutations
Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is main differential diagnosis for primary hyperparathyroidism. The aim our study was describe clinical characteristics adult patients living in France with a genetically confirmed FHH1.This observational, retrospective, multicentre included 77 adults, followed up 32 departments France, genetic FHH1 between 2001 and 2012.Hypercalcaemia diagnosed at...
Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global impairment assessment has been determined, and physiopathology not well known. Methods aim study was analyze among French series 3,412 patients (IPN), ones who also suffer from loss, establish phenotype‐genotype correlations. An NGS strategy for IPN one side...
Molecular diagnosis is an essential step of patient care. An increasing number Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, allows the rapid easy detection CNVs diseases, as well patients with cancer, even low ratio cancer cells healthy cells. This tool could be very...
The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of have been found patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. In a patient amyelinating neuropathy, we observed pathological abnormalities recapitulating the nervous system phenotype homozygous Egr2-null mice. This patient, born from consanguineous parents, showed no immunoreactivity cells and harbored 10.7-kilobase-long...
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated series eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from and we emphasized the clinical clues early diagnosis. Investigations included routine laboratory analyses, skin biopsy, nerve biopsy molecular genetics. The had evidence neuronopathy. All but one neuropathic pain that started in asymmetric fashion two patients....
There are many potential mechanisms of peripheral nerve impairment by a monoclonal IgG dysglobulinemia. In this study, using electron microscopy, we observed widening the myelin lamellae comparable to that commonly described in IgM neuropathies with antimyelin-associated glycoprotein activity. Such features have yet be neuropathies. addition, deposits granular material interstitial tissue nerve. By immunoelectron demonstrated presence lesions and endoneurial space. A direct link between...
Objective Gain-of-function mutations of the calcium-sensing receptor ( CASR ) gene have been identified in patients with sporadic or familial autosomal dominant hypocalcemia (ADH). Inactivating cause hypocalciuric hypercalcemia (FHH). Here, we report two novel affecting same amino acid (p.N802); one causes ADH and other atypical FHH. Patients methods The first patient, an 11-year-old girl suffering from hypocalcemia, developed nephrocalcinosis when she was only 5 years old. second patient is...
Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and maintenance axonal diameter. Pathogenic variants Neurofilament Light (NEFL) associated with CMT1F, CMT2E, CMTDIG have been observed in less than 1% Charcot‐Marie‐Tooth (CMT) cases, resulting reporting 35 173 CMT patients to date. However, only six reported 17 impaired hearing. No genotype‐phenotype correlations yet established. Here, we report an additional case: a...
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot-Marie-Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) this paper. With over 100 different CMT-associated genes involved ongoing discoveries, an important interlaboratory diversity of gene panels exists at national international levels. Here, we present the work French National Network Rare Neuromuscular Diseases (FILNEMUS) section...