Genetics of blood vessel muscle spasms

There are three layers of tissues between the scull and the brain. The space between the middle layer and the one directly on top of the brain is the subarachnoid space. Spinal fluid and blood vessels fill this space. Arteries are the blood vessels that deliver oxygen-rich blood to the Read more

Protein change in Parkinson’s Disease

Parkinson’s disease is a disorder of the nervous system that affects movement. It starts slowly, but continues to get worse with time. At this time, there is no cure. Drugs can help control the symptoms, such as muscle tremors or stiffness. Over time, these drugs may stop working. They can Read more

Finding new cases of a rare brain condition

D2-HGA is a rare condition that affects the brain. It usually shows up in young children resulting in growth delays, seizures and weak muscle tone. These signs get worse over time. This can cause severe disability or even death at a young age. Changes in either one of two genes Read more

Gene changes linked to autonomic dysfunction syndromes

Multiple system atrophy (MSA) is a rare disease that causes things like blood pressure, heart rate and digestion not to work very well. These are things that are “automatically” controlled. It usually occurs in people in their 50s and 60s. It continues to get worse once it starts. Patients usually Read more

Finding causes of inherited nerve disease

Charcot-Marie-Tooth (CMT) diseases are common inherited nerve disorders. CMT affects nerves of the body, but generally does not affect the nerves in the brain and spinal cord. People with CMT may have muscle weakness and foot deformities. They may also lose their sense of touch and tendon reflexes. There are Read more

Probing a genetic cause of Cushing’s syndrome

Cushing’s syndrome happens when the body has too much of the hormone cortisol. The most obvious sign of Cushing’s syndrome is rapid weight gain around the belly. The condition can lead to diabetes and high blood pressure. If not treated, Cushing’s syndrome can be deadly. There are some medicines to Read more

Genetic factors in pain and pain treatment

Two people may experience pain very differently, even if they have the same disease or have had the same surgery. How they respond to pain medicines can also be very different. A drug that helps one person may not work for another person. What causes these differences is not known, Read more

Epilepsy-associated gene variants

Sodium channel proteins move sodium in and out of our cells. Some types of epilepsy have been linked to changes in genes for sodium channels. But changes in other genes may affect how severe a person’s disease is. The researchers leading this project have found one of these other genes Read more