New genetic clues found in fragile X syndrome

New genetic clues found in fragile X syndrome

Scientists, led in part by Washington University’s Vitaly Klyachko, PhD, have gained new insight into fragile X syndrome — the most common cause of inherited intellectual disability — by studying the case of a person without the disorder, but with two of its classic symptoms.

Cooling may prevent trauma-induced epilepsy

In the weeks, months and years after a severe head injury, patients often experience epileptic seizures that are difficult to control. A new study in rats suggests that gently cooling the brain after injury may prevent these seizures.

Researchers identify gene for rare dementia

Studying family members suspected of having Alzheimer’s disease, researchers at Washington University School of Medicine in St. Louis have identified a gene that causes a rare disorder highlighted by memory loss and motor impairments. The condition is known as Kufs disease, but scientists say the discovery paves the way to development of a genetic test for Kufs and to therapies to treat dementia, which is a hallmark of Kufs and of other neurodegenerative conditions, such as Alzheimer’s disease. 

Mouse model may suggest new ways to treat some causes of epilepsy

David GutmannJust as films or plays feature both stars and a supporting cast, in the brain the cells called neurons have “starring roles.” But a team of epilepsy researchers led by David H. Gutmann, M.D., Ph.D., the Donald O. Schnuck Family Professor of Neurology at Washington University School of Medicine, has found that a type of supporting cell in the brain is responsible for some epileptic seizures. Studying mice that develop a genetic disorder called tuberous sclerosis complex (TSC), which affects about 50,000 Americans and causes debilitating epileptic seizures in half of them, Gutmann’s team found that cells called astrocytes played a critical role in the development of seizures. The researchers found that mice that lack a particular gene developed seizures, and they say that gene, combined with the knowledge that the “supporting” astrocyte cells are responsible for the seizures, provides new targets for treating epilepsy.