A woman who can smell Parkinson’s inspired researchers to produce test for diagnosis

It has the potential to be the first diagnosis method for Parkinson's disease.
Mert Erdemir
Human brain on technology background stock photo.
Human brain on technology background stock photo.

INchendio/iStock 

A woman with a hyper-sensitive sense of smell helped University of Manchester scientists develop a test to detect Parkinson’s disease, according to an institutional press release published today.

New research suggests that people with Parkinson's disease have lipids with a high molecular weight that are significantly more active.

The research included a sample group of 79 people with Parkinson’s compared with a healthy control group of 71 people. Researchers employed cotton swabs to collect samples from participants by running along the back of the neck and identifying the compounds present with mass spectrometry. The method combines ion mobility separation with paper spray ionization mass spectrometry and can be performed in three minutes from swab to results.

"We are tremendously excited by these results, which take us closer to making a diagnostic test for Parkinson's Disease that could be used in clinic," said Professor Perdita Barran at The University of Manchester, who led the research.

'The woman who can smell Parkinson’s'

The study has arisen from Joy Milne, a 72-year-old woman from Perth, Scotland, who has Hyperosmia, a hereditary condition that gives her a heightened sensitivity to smells. Milne's rare condition made her notice that her husband Les had a musky odor when he was 33 years old, 12 years prior to being diagnosed with Parkinson's disease.

Nicknamed "the woman who can smell Parkinson’s," Milne told Dr. Tilo Kunath from Edinburgh University about the change in smell after her husband's diagnosis was verified. And this was what sparked a procedure that led to the development of a swab test by researchers at the University of Manchester.

Intrigued by her ability, scientists decided to look into what she could smell and whether this could be harnessed to help identify people with a neurological condition. Scientists are enthusiastic about the possibility of the NHS being able to use a straightforward test for the disease, even if research is still in its early stages.

Diagnosis based on cotton swabs

Parkinson's is the fastest-growing neurological condition in the world, and it can cause various symptoms, such as difficulty walking, speaking, and a tremor. Unfortunately, there isn't an available cure yet, but some treatment methods help relieve the symptoms and maintain the quality of life.

There is no definitive method for diagnosing Parkinson’s disease, either. Therefore, diagnosis is based on a patient’s symptoms and medical history. The skin swab could be implemented to produce a quicker diagnosis if it is successful outside laboratory conditions.

"At the moment we have developed it in a research lab, and we are now working with colleagues in hospital analytical labs to transfer our test to them so that it can work within an NHS environment," Barran told BBC. "We are hoping within two years to be able to start to test people in the Manchester area."

The study was published in the Journal of the American Chemical Society.

Abstract:

Parkinson’s disease (PD) is the second most common neurodegenerative disorder, and identification of robust biomarkers to complement clinical diagnosis will accelerate treatment options. Here, we demonstrate the use of direct infusion of sebum from skin swabs using paper spray ionization coupled with ion mobility mass spectrometry (PS-IM-MS) to determine the regulation of molecular classes of lipids in sebum that are diagnostic of PD. A PS-IM-MS method for sebum samples that takes 3 min per swab was developed and optimized. The method was applied to skin swabs collected from 150 people and elucidates ∼4200 features from each subject, which were independently analyzed. The data included high molecular weight lipids (>600 Da) that differ significantly in the sebum of people with PD. Putative metabolite annotations of several lipid classes, predominantly triglycerides, and larger acyl glycerides, were obtained using accurate mass, tandem mass spectrometry, and collision cross-section measurements.

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