CHARGE syndrome is a rare genetic disease (1/10 000 births) caused by mutation of a copy of CHD7 gene resulting in many defects. This syndrome is particularly recognized as the major cause of deafness and congenital blindness. In affected children, neurological disorders increase with age. The team of Dr. Parras to the ICM has shown that this anomaly would be linked to a deficient myelination. Their findings indicate that CHD7 gene is essential for the maturation of oligodendrocytes and myelin formation. This new potential therapeutic target could help develop new treatments for people suffering from diseases due to defects in myelination.

 

New book is for PD patients, their families, but also the general public, containing medical and scientific reminders released last month in bookstores! Dr Bashir Jarraya researcher NeuroSpin @CEA Saclay, neurosurgeon at the Foch Hospital and University Professor at Versailles is co-author with Dr. Hausser-Hauw and Dr. Bourdain of Foch Hospital.

In the context of World Parkinson’s disease day on April 11th, the ICM focuses on the latest discoveries.

Parkinson’s disease is the most common neurodegenerative disease after Alzheimer’s. Second cause of motor disability with 4 million people in the world, Parkinson’s disease is characterised by the death of a population of neurons, called dopaminergic. These neurons produce a substance, dopamine, playing a role in the transmission of information between neurons, and essential to the harmonious control of movements. Symptoms include slow movements, stiffness of the limbs and chest, tremor, and walking ability disorders. These motor symptoms can lead to disability and loss of total autonomy in the person suffering from this disease.

Drug treatments can reduce the symptoms of the disease, by using dopamine agonists. However, there is no treatment to slow the progression of the disease; we can’t prevent neuronal death. Moreover, this neuronal degeneration is unfortunately not limited to dopaminergic neurons, nor to the motor system.

What are the risk factors of the disease ? What are the mechanisms responsible for the loss of neurons ? And how to counter them in order to slow the progression of the disease ? Researchers and clinicians take advantage of the ICM premises and its cutting-edge technology platforms to answer these questions and fight the disease.

 

http://icm-institute.org/en/actualite/world-parkinsons-disease-day/

For the first time in humans, an imaging study shows early and protective role of immune cells in the brain, called "microglia" in Alzheimer's disease. The teams of the CHU Sainte-Anne, the CEA, Saint-Antoine research center, the Institute for Brain and Spinal Cord Disorders (Inserm / CNRS / UPMC) and Roche researchers have identified a benefit of inflammatory mechanisms the early or preclinical stages, in a group of 96 subjects. This discovery opens up new therapeutic approaches to slow or even prevent the progression of Alzheimer's disease. This work, from the IMABio3 study * sponsored by AP-HP, are the subject of a publication on 16 March in the journal Brain.

For the 17th edition of Brain Awareness Week , coordinated by the Society for Neuroscience , CEA- NeuroSpin opens and organizes many meetings with scientists.

Conferences and  visits to discover or deepen your knowledge on the brain.

 

Memory and epilepsy: the role of connexin 30

CEA-I2BM shows that connexin 30 is a new potential therapeutic target to increase memory or reduce seizures in patients with epilepsy.

"Connexin 30 sets synaptic strength by controlling astroglial invasion synapse" in Nature Neurosciences

> Click here to learn more

Kick off Meeting de NeurATRIS, Infrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciences

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