A5109482655- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Neurogenetic and Muscular Disorders Research
- Ion channel regulation and function
- Restless Legs Syndrome Research
- Alzheimer's disease research and treatments
- Sleep and Wakefulness Research
- Neuroscience and Neuropharmacology Research
- Cellular transport and secretion
Inserm
2017-2025
Université de Strasbourg
2019-2025
Neuroscience et Psychiatrie Translationnelle de Strasbourg
2024-2025
Mécanismes Centraux et Périphériques de la Neurodégénérescence
2019-2020
Institut de Neurobiologie de la Méditerranée
2017
Aix-Marseille Université
2017
Institut de Génomique Fonctionnelle
2017
Centre National de la Recherche Scientifique
2017
Sleep alterations have been described in several neurodegenerative diseases yet are currently poorly characterized amyotrophic lateral sclerosis (ALS). This study investigates sleep macroarchitecture and related hypothalamic signaling disruptions ALS. Using polysomnography, we found that both patients with ALS as well asymptomatic C9ORF72 SOD1 mutation carriers exhibited increased wakefulness reduced non–rapid eye movement sleep. Increased correlated diminished cognitive performance clinical...
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, characterized by the death of upper (UMN) and lower motor neurons (LMN) in cortex, brainstem, spinal cord. Despite decades research, ALS remains incurable, challenging to diagnose, extremely rapid progression. A unifying feature sporadic familial forms cortical hyperexcitability, which precedes symptom onset, negatively correlates with survival, sufficient trigger neurodegeneration rodents. Using...
Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly evolving neurodegenerative disease arising from the loss of glutamatergic corticospinal neurons (CSN) cholinergic motoneurons (MN). Here, we performed comparative cross-species transcriptomics CSN using published snRNA-seq data motor cortex ALS control postmortem tissues, longitudinal RNA-seq on purified male Sod1G86R mice. We report that undergo ER stress altered mRNA translation, identify transcription factor CREB3 its regulatory...
Recent studies carried out on amyotrophic lateral sclerosis patients suggest that the disease might initiate in motor cortex and spread to its targets along corticofugal tracts. In this study, we aimed test hypothesis of experimentally.
Amyotrophic lateral sclerosis (ALS) arises from the combined degeneration of motor neurons (MN) and corticospinal (CSN). Recent clinical pathological studies suggest that ALS might start in cortex spread along corticofugal axonal projections (including CSN), either via altered cortical excitability activity or prion-like propagation misfolded proteins. Using mouse genetics, we recently provided first experimental arguments favour hypothesis, but mechanism remained an open question. To gain...
Summary Objective Kv7 channels mediate the voltage‐gated M‐type potassium current. Reduction of M current due to KCNQ 2 mutations causes early onset epileptic encephalopathies ( EOEEs ). Mutations in STXBP 1 encoding syntaxin binding protein can produce a phenotype similar that mutations, suggesting possible link between and channels. These are known be modulated by syntaxin‐1A (Syn‐1A) binds C‐terminal domain Kv7.2 subunit strongly inhibits Here, we investigated whether 1could prevent this...
Abstract Lateral hypothalamic neurons producing melanin-concentrating hormone (MCH) and orexin/hypocretin are involved in sleep regulation. Both MCH orexin altered amyotrophic lateral sclerosis (ALS), the most common adult-onset motor neuron disease. However, alterations currently poorly characterized ALS, could represent either early symptoms or late consequences of disease progression. Here, we architecture using polysomnography cohorts both ALS patients without respiratory impairment...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly evolving neurodegenerative disease that arises from the loss of glutamatergic corticospinal neurons (CSN) cholinergic motoneurons (MN). The mostly sporadic, but genetics expected to highly contribute onset progression. Genome wide association studies identified few genetic modifiers, associated with negative outcome, demonstrated ALS primarily excitatory neurons. Here, we reasoned at least subpart modifiers may directly...
Abstract Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease of adulthood that affects voluntary motricity and rapidly leads to full paralysis death. ALS arises from the combined degeneration motoneurons in spinal cord brain stem, responsible for muscle denervation, corticospinal projection neurons (CSN), emergence upper motor neuron syndrome. Recent studies carried on patients suggest may initiate cortex spread its targets. However, this “corticofugal hypothesis” has...