Media reports recently have heralded a breakthrough in the early diagnosis of Parkinson’s disease (PD) that can reveal a key biomarker of the disease. This biomarker is abnormal alpha-synuclein — also known as the “Parkinson’s protein” — which is found in the brain and in body cells.
The new research, funded by the Michael J. Fox Foundation for Parkinson’s Research, is based on spinal fluid samples taken from patients. The testing proved to be 93 percent accurate among study participants with Parkinson’s, researchers said.
There is no definitive test yet to diagnose Parkinson’s disease. However, Marcus Neuroscience Institute at Boca Raton Regional Hospital, part of Baptist Health, is one of just a handful of highly specialized centers of excellence in the region to offer a Syn-One Test, which identifies abnormal alpha-synuclein proteins in the cutaneous nerve fibers of the skin. These proteins are linked to Parkinson’s and a variety of other movement disorders.
Sameea Husain Wilson, D.O., director of Movement Disorder Neurology for Marcus Neuroscience Institute at Boca Raton Regional Hospital.
The Syn-One Test involves three small and painless skin-punch biopsies, explains Sameea Husain Wilson, D.O., director of Movement Disorder Neurology for Marcus Neuroscience Institute. An earlier diagnosis of Parkinson’s enables neurologists to start their patients on medications quicker, “which would translate into motoric stability and an improved quality of life,” said Dr. Husain.
How accurate is the Syn-One Test compared to the new findings using spinal fluid? The skin biopsy is closer to 98 percent accuracy, said Dr. Husain.
“The procedure involves applying a numbing agent to three different areas on the body which include near the neck, the outer thigh and the outer calf, explains Dr. Husain. “The skin is totally numb. So, the patient feels nothing and the procedure is over in about 15 minutes. These skin samples are sent off to be analyzed and when they come back to me, they're going to confirm my clinical suspicion that the patient indeed has Parkinson’s disease.”
Parkinson’s disease is a neurodegenerative disorder that affects predominately dopamine-producing (“dopaminergic”) neurons in a specific area of the brain. Parkinson’s disease occurs when nerve cells in the basal ganglia, the part of the brain that controls movement, become impaired and/or die. Normally, these nerve cells produce dopamine. When the neurons die or become impaired, they produce less dopamine, which causes the mobility problems seen in Parkinson’s disease.
Symptoms of Parkinson’s generally develop slowly over years. The progression of symptoms is often a bit different from one person to another due to the diversity of the disease, but classically people with Parkinson’s may experience: tremors, mainly at rest, bradykinesia (slowness of movement), limb rigidity and gait and balance problems.
“Over the last few years, using these ancillary tests such as the skin biopsy or the DATscan have allowed us to make the diagnosis of Parkinson’s disease earlier than perhaps we would’ve made it clinically,” said Dr. Husain. “It should be known that these ancillary tests do not confirm the diagnosis that the patient has Parkinson’s. The diagnosis is made clinically by a neurologist that specializes in movement disorders and then an ancillary test may or may not be used if necessary.”
DaTscan is a drug that is injected into the bloodstream to assess dopamine containing neurons, which are involved in controlling movement. In people with Parkinson's, the DaTscan would be positive indicating that there are fewer dopamine cells. The DaTscan can also differentiate Parkinson's disease from other movement disorders that don't affect dopamine containing cells.
“When a patient has a Datscan they will go through a scanner,” explains Dr. Husain. “If the patient makes the neurotransmitter dopamine, which is a chemical that Parkinson patients don't make, then the DaTscan will be picked up in the area where the dopamine is made.”
“For a well-trained, movement disorder neurologist, making the diagnosis of Parkinson’s disease is not difficult,” said Dr. Husain. “But what is difficult is capturing Parkinson’s patients at such an early stage that they have not yet developed any motoric features.”
Advances are also constantly evolving in both medication and technology-driven surgical therapies to diminish unmanageable tremors, slowness of movement and rigidity — as well as non-movement related Parkinson’s symptoms such as anxiety, depression, sleep disorders and cognitive issues.
“The pharmaceutical companies are always studying new and advanced ways to deliver dopamine to the brain of a Parkinson’s patient,” said Dr. Husain. “In addition to oral dopamine medications, there are now medications that deliver dopamine through an inhaler and through a sublingual film. There have also been advances in the development of extended-release dopaminergic medications and medications to decrease ‘OFF’ time (worsening of symptoms).”
Dr. Husain’s final words: “Long story short, the future is bright so stay tuned.”