DESNUELLE , Claude

PURPOSE OF REVIEW: The first reports published in 2010 on enzyme replacement therapy in late-onset Pompe disease (LOPD) allow us now to stand back and adapt the strategies. In the meantime, substantial progress has been made in basic and applied research on animal models to enhance the efficacy of treatments. This brief review highlights the...

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The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and the potential impact of these strategies on survival. A total of 49 subjects were recruited. Each subject was asked to complete a questionnaire on coping strategies called the Brief COPE. The various coping strategies were...

BACKGROUND AND OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a fatal, neurological disease, which can potentially impact mental health as well as the adaptation process of people who are affected. Most of the results available are cross-sectional. The aim of this study was to study the evolution of coping strategies, Quality of Life (QoL),...

ObjectivesAmyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease, restricts patients' communication capacity a few years after onset. Promising proof-of-concept of Brain-Computer Interface (BCI) has already been demonstrated in ALS and locked-in patients, mostly in pre-clinical studies or only on few patients, but...

IntroductionLe BCI permet de traduire en commandes des signaux EEG générés par une activité cérébrale. Son utilisation chez des témoins est fiable mais n'a été testée que ponctuellement comme moyen de communication alternative chez des patients lourdement handicapés.ObjectifsLes objectifs étaient d'établir la faisabilité d'utilisation du BCI...

AbstractIntroductionAmyotrophic lateral sclerosis (ALS) is a neuromuscular disease with a severe prognosis, leading to disorders that promote the occurrence of undernutrition. This is an independent factor of survival in this disease. However, the digestive tract is most often functional. For reasons of difficulty in setting up enteral...

Skeletal muscle cells constitute a heterogeneous population which maintains muscle integrity through a high myogenic regenerative capacity. More unexpectedly this population is also endowed with an adipogenic potential, even in humans, and intra-muscular adipocytes have been found to be present in several disorders. We tested the distribution...

The Fragile X Mental Retardation-Related 1 (FXR1) gene belongs to the Fragile X Related family, that also include the Fragile X Mental retardation (FMR1) gene involved in Fragile X syndrome, the most common form of inherited mental retardation. While the absence of FMRP impairs cognitive functions, inactivation of FXR1 has been reported to have...

Brain Computer Interfaces (BCI) provide a way of communicating directly from brain activity, bypassing muscular control. We report some recent advances in a BCI communication system called the P300 speller, which is a virtual brain-operated keyboard. This system relies on electroencephalographic activity time-locked to the flashing of the...

Andersen's syndrome (AS) is a rare and dominantly inherited pathology, linked to the inwardly rectifying potassium channel Kir2.1. AS patients exhibit a triad of symptoms that include periodic paralysis, cardiac dysrhythmia and bone malformations. Some progress has been made in understanding the contribution of the Kir2.1 channel to skeletal...

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s)...

Objective: The aim of this study was to investigate the effects on motor function, muscle strength, and endurance of short-term neuromuscular electrical stimulation training of the tibialis anterior muscles in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) in comparison with healthy controls.Design: This prospective study...

The differentiation of multipotent cells into undesirable lineages is a significant risk factor when performing cell therapy. In muscular diseases, myofiber loss can be associated with progressive fat accumulation that is one of the primary factors leading to decline of muscular strength. Therefore, to avoid any contribution of injected...

Background:Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). Theobjective of the French national diagnostic and management protocol is to provide evidence-based best...

Abstract Background Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best...

Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes. Whereas primary CoQ(10) defects are related to mutations in ubiquinone biosynthetic genes, which are now being unraveled, and respond well to CoQ(10) supplementation, the etiologies, and clinical phenotypes related to secondary deficiencies...

OBJECTIVE: To establish a normative database for isometric strength measured by quantitative muscle testing (QMT) for a French adult population.DESIGN: Measurement of maximal voluntary isometric contraction.SETTING: Four clinical centers involved in neuromuscular disorders.PARTICIPANTS: A total of 315 healthy adults (147 men, 168 women) ages 20...

ObjectiveTo identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis and Southern blot analysis.Design and patientsThe authors studied 16 patients displaying an FSHD-like phenotype, with normal...

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most frequent adult myopathies (1/20.000), with selective involvement of specific groups of muscles : facial, scapular fixator, anterior foreleg muscles, abdominal and humeral muscles. Vastus lateralis (VL) is usually spared clinically until late stages of the disease, and...

BACKGROUND:Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases...