Abnormal brain circuits may prevent symptoms in Dystonia, Migraine

We know there is a genetic component to Dystonia. We know there is a genetic component to Migraine. Why then, do some people have the genetic errors encoded in their DNA for these neurological disorders, yet never show symptoms? A common presumption is the description of Variable Penetrance, but until now, we had no actual idea how...

"..many diseases can be triggered by a single gene, but the expression of this gene can differ greatly, even in individuals from the same family" ~ David Standaert, MD, PhD, University of Alabama at Birmingham and expert in Parkinson's and other movement disorders.

Now, an unexpected and novel new discovery by the Feinstein Institute for Medical Research about how the different areas of our brains are physically connected together, may help us understand why a child or an adult may be living with the symptoms of a serious genetic brain disorder, yet relatives can live normal lives with the same genetic mutation. Dr. Standaert sees implications in other more common neurological disorders, including Migraine.

The journal Neuroscience reported yesterday that the cause may actually be altered brain pathways - abnormalities created in the early stages of brain development connecting the different parts of the brain together - that determine if the patient will suffer symptoms of the movement disorder Dystonia.

The intriguing details

A special kind of MRI was used and two abnormal connections were identified. One abnormal connection was the same in all people with a specific genetic mutation for Dystonia. The other abnormal connection was only found in those with the same genetic mutation but NO SYMPTOMS. Surprisingly, those with symptoms of Dystonia had a normal connection in the second area of the brain and those with the abnormal connection were symptom-free.

Scientists speculate it was the formation of the second abnormal connection that protected the patient from Dystonia symptoms. In other words, the second abnormality offset the first.

It's speculated that a subtle shift in later brain development may be responsible for adult onset of symptoms, while earlier shifts are responsible for earlier onset of symptoms.

It is hoped that studying these pathways will help scientists learn new ways to prevent symptoms by properly balancing the affected connections.

Sources: Science Daily, Medical News Today