Five years ago, Alice Jones (not the patient’s real name for privacy) noticed she was having trouble wiggling her toes and using her left shoulder for everyday tasks like washing her hair.

After a referral to a neurologist, Jones was diagnosed with a frozen shoulder and pinched nerve. Despite weeks of physiotherapy treatment, her mobility didn’t improve. Then, on a visit out-of-town to see her daughter, she met with two new physiotherapists who immediately noticed something different.

“Those two physiotherapist visits were the turning point in my diagnosis,” said Jones. “They saw what nobody else had seen: my arms weren’t swinging naturally when I was walking. They identified my arms not swinging as a sign of Parkinson’s.”

After connecting with the right specialists, Jones was diagnosed with Parkinson’s disease, a nervous system disorder afflicting more than 100,000 Canadians; the disease affects movement and currently has no cure.

Now, an interdisciplinary research team is working to improve the current, multi-step system of diagnosing Parkinson’s by using biomarkers to help speed up the process and treat patients sooner.

Dr. Penny MacDonald, neurology professor and movement disorders neurologist  (Credit: Schulich Medicine and Dentistry)

Banking on biomarkers

Dr. Penny MacDonald, a movement disorders neurologist and professor in neurology at Western University, recently teamed up with McGill University professor Dr. Alain Dagher, and Ali Khan, professor in the department of medical biophysics and medical imaging at Western.

This cross-institutional research team has developed a project that will use magnetic resonance imaging (MRI) to identify biomarkers to diagnose Parkinson’s earlier, track progression over time, and better understand the disease. A biomarker is an objective medical state observed in a patient. When identified and validated, biomarkers are a powerful tool to identify progression and aid in disease diagnosis.

Ali Khan, professor, department of medical biophysics and medical imaging

The project is part of the newly developed McGill-Western Initiative for Translational Neuroscience (ITN), supported by the Canada First Research Excellence Fund through Western’s BrainsCAN and McGill’s Healthy Brains, Healthy Lives initiatives.

Parkinson’s is a complex disease with many symptoms, explained MacDonald. “Parkinson’s is an aging-associated disorder and the fastest growing neurological disease in the world. Patients often have symptoms that are confusing to them, as well as to their general practitioners, neurologists, and even sometimes movement disorder specialists.”

Symptoms of Parkinson’s can often resemble several other diseases, like progressive supranuclear palsy and multisystem atrophy, which can lead to uncertainty in diagnosis, according to Dagher.

“This can happen when patients don’t have a good response to medication,” he said, noting the importance of making a correct diagnosis early on.

Dr. Alain Dagher, professor, McGill University (Credit: Christinne Muschi)

In addition to this uncertainty, the current system of diagnosis also requires multiple steps that delay a patient’s access to the care they would have needed sooner, MacDonald explained. “A family doctor who might suspect Parkinson’s now refers their patient, and the patient has to wait for a movement disorder neurologist or a neurologist for an assessment.”

Helping Canadians live well

A more efficient method for diagnosis, like the one being investigated by MacDonald’s team, could decrease the strain on Canada’s health-care system by enabling family doctors to treat patients without the need for referrals to specialists. MacDonald believes this will be especially impactful in remote areas of the country, where patients don’t have access to a movement disorder neurologist. The use of biomarkers in diagnosis will promote health-care equity for Parkinson’s patients across Canada.

“A confirmatory test like an MRI could allow a general practitioner to order the radiological suite that will be distinct for Parkinson’s,” said MacDonald. “They’ll be able to confirm if the patient has Parkinson’s and they’ll feel empowered to start the medication.”

A faster process will also reduce stress for patients with Parkinson’s symptoms who are waiting for a diagnosis.

“Even though we can’t cure Parkinson’s, existing therapies can reduce symptoms, keeping patients in their jobs and in their lives,” said MacDonald. “If a patient is waiting a year or more to see a neurologist or movement disorder neurologist, after their general practitioner has submitted a referral, that’s often time that they’re waiting to be treated. That wait is not trivial and huge changes can happen during that time – people sell their homes, they leave their jobs – so a lot of that uncertainty could be dealt with sooner.”

For Jones, her diagnosis and treatment meant getting back to her life.

“After diagnosis, I immediately started therapy to help with the symptoms and had significant, measurable progress in two weeks,” she said. “I became rejuvenated, because it turns out that the various challenges were all related and, as the neurotransmitters were strengthened and re-established, my abilities and confidence in my body returned. Parkinson’s has motivated me to remain very active to retain my motor skills.”

Work on the ITN biomarker project will begin later this year and is a necessary first step in understanding the changes that result from Parkinson’s. In the longer term, the researchers hope to find methods to develop therapies that address the disease itself, rather than just the symptoms.

“The ultimate aim is for these biomarkers to help us uncover therapies that either slow the progression of Parkinson’s, stop it, or reverse it,” said MacDonald. “But even if we can’t come up with a cure or a treatment that’s going to change therapy, just having a biomarker translates into better care for patients right now.” 

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The McGill-Western Initiative for Translational Neuroscience (ITN) is a collaborative research initiative supporting two large-scale research projects to impact the lives of those living with neurodegenerative conditions. Supported by the Canada First Research Excellence Fund (CFREF) through Western’s BrainsCAN and McGill’s Healthy Brains, Healthy Lives initiatives, the ITN brings world-renowned neuroscientists from McGill and Western together to focus on neurodegenerative research projects.