Did you know that Jews with the disease have a higher risk for LRRK2, one of the recently found genetic mutations? April is Parkinson’s Disease Awareness Month, and a study conducted in New York revealed that the mutation may occur in 15 to 20 percent of Ashkenazi Jews with a family history of the disease, which has no cure. 

The Greater St. Louis American Parkinson Disease Association (APDA) was founded in 1984 after Susan Levin, a volunteer at Jewish Hospital, organized a support group for patients and families affected by the disease. Today the organization serves patients and families through support groups, exercise classes and educational programs on the Washington University School of Medicine campus and at the Parkinson Community Resource Center in Chesterfield. (For more information, call 314-362-3299 or see www.stlapda.org)

Dr. Joel Perlmutter, medical director of the local association, made time recently to talk about his work.

 

When my grandmother was diagnosed with this disease, it was known as Parkinson’s. What happened to the apostrophe and the “s”?

James Parkinson, who first described it in 1817, does not own this disease. We’re getting away from the possessive, though there is much lively discussion about it. 

 

How many people have Parkinson disease and what are the signs? 

One million people in the U.S. have it. The average age of onset for Parkinson disease is 60, and the risk increases as we become older. The most-recognized symptom is a  tremor, yet 30 percent with the disease do not have a tremor. Usually the tremor just affects one hand, though it can be in the other. It also can affect the jaw or the head.   

 

What are some other symptoms?

Some people show slowness of movement, stiffness, shuffling of gait, perhaps the dragging of one foot. Some develop a softer, less distinct speech or have difficulty with swallowing. In some people, thinking can be affected. There are lots of manifestations.

 

Does this come on suddenly?

No. It has a gradual onset, unlike a stroke.

 

Is Parkinson disease easy to diagnose?

I’ve seen many people misdiagnosed, including my uncle. I diagnosed him over dinner many years ago. He had a long history of an essential tremor, the kind that occurs when you’re moving or drinking a cup of coffee, but then developed the classic resting tremor, one that occurs with the limbs at rest, and other signs of Parkinson disease. 

 

What causes this disease?

It is an abnormality within the brain, due to an abnormal protein that causes the loss of nerve cells that produce dopamine.  This leads to a dopamine deficiency that causes the motor manifestations.  Some may develop the disease from genetic causes, others from environmental exposures, and many factors remain to be discovered.

 

What treatments are available?

Now that we understand the chemical deficiency in the brain, we can base treatment on our knowledge of the loss of that chemical, and replace the missing dopamine with L-Dopa. We also have drugs that make L-Dopa last longer and that directly bypass dopamine, going directly to the dopamine receptor. 

 

Are there complications from these treatments? 

As the disease progresses, some people develop involuntary movements with each dose of medication, like (actor) Michael J. Fox.  When that happens, we try to lower the dose and find a balance between benefit and these involuntary movements. Some meds can help reduce these involuntary movements, but in some cases we can also turn to the miracle of deep brain stimulation. 

 

How does that work?

We put electrodes deep into the brain, and connect them to devices placed under the skin below the collarbone. The surgery helps smooth out people’s responses to medications and permits them to do better.

 

What’s next in research? 

The biggest unmet need is serving people who have thinking problems with the disease. We don’t have a treatment, but we do have several grants to work on this.  The APDA has provided us with seed money to collect preliminary data , and then we use that data to obtain research grants from the National Institute of Health. We are grateful for that.