By Jill Pease
Dementia with Lewy bodies is notoriously difficult to diagnose. Symptoms can resemble several other conditions, leading to delayed or incorrect diagnoses. Until recently, the only way to confirm dementia with Lewy bodies was to test a person’s brain after death for the presence of abnormal clumps of a protein called alpha-synuclein.
New scientific breakthroughs have led to multiple tests that make it possible to test living patients for evidence of abnormal alpha-synuclein, a protein that becomes dysfunctional and accumulates in people with dementia with Lewy bodies. Although these tests show promise, critical questions remain, including how well the results from different tests agree with each other, their ability to explain symptoms and their role in improving diagnosis or care for people with other diseases such as Alzheimer’s disease.
With $2.5 million in funding from the Lewy Body Dementia Association, a team of scientists across four universities aims to close the gap and provide new insights that could lead to earlier and more accurate diagnosis and improved treatment for people living with dementia with Lewy bodies.
Breton Asken, Ph.D., an assistant professor of clinical and health psychology in the University of Florida College of Public Health and Health Professions, and Jeremy Tanner, M.D., an assistant professor of neurology at the University of Texas at San Antonio, lead the new study, named Clin-Syn, in collaboration with researchers at the University of California, San Francisco and Virginia Commonwealth University.
“We want to both accelerate diagnostic biomarker research in Lewy body dementia and provide clinicians with a clearer understanding of what these biomarker tests mean for their patients so they can most effectively and meaningfully communicate results and guide management decisions,” Asken said. “This project will help doctors use these tests more effectively to diagnose and care for patients.”
The study will enroll people with early symptoms of Lewy body disease, people with early symptoms of Alzheimer’s disease, and adults without symptoms for comparison. Participants will complete a single comprehensive visit that includes a neurological exam, cognitive tests, brain scans, skin and blood sample collection, a lumbar puncture, saliva collection, and optional brain donation enrollment.
“By analyzing multiple biomarkers of alpha-synuclein and Alzheimer’s disease in these samples, and linking them with clinical symptoms, we aim to better understand what each test reveals about brain changes in dementia with Lewy bodies and Alzheimer’s disease to help inform clinical practice and clinical trials,” said Tanner, a member of the Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases in a UT San Antonio release.
More than 1 million Americans have Lewy body disease, making it the second most common form of neurodegenerative dementia after Alzheimer’s disease, according to the Lewy Body Dementia Association.
Physicians suspect dementia with Lewy bodies in patients who experience memory and thinking changes along with hallucinations, acting out dreams and Parkinson’s-like symptoms, including tremors and movement problems, said study co-investigator Melissa Armstrong, M.D., a professor of neurology in the UF College of Medicine.
“It is estimated that 1 in 3 dementia with Lewy bodies diagnoses is missed,” said Armstrong, the director of the UF Health Mangurian Clinical-Research Headquarters for Lewy Body Dementia at the Norman Fixel Institute for Neurological Diseases. “For people who do get the diagnosis, it often takes several years and multiple doctors. People may also be initially misdiagnosed as having Alzheimer’s disease or Parkinson’s disease. Right now, the diagnosis of dementia with Lewy bodies is still made primarily by listening to the patient and doing a physical examination.”
Diagnostic difficulties can leave patients and families searching for answers for years.
“For too many families, the journey to a dementia with Lewy bodies diagnosis is long and filled with uncertainty,” said Michael S. Okun, M.D., a distinguished professor and director of the Fixel Institute. “By bringing together leading experts and promising new diagnostic tools, this study represents an important step toward helping patients receive the answers and care they deserve much earlier.”
The Clin-Syn study will help doctors use diagnostic tests more effectively and create an open-access, high-quality resource of biological samples and data to support future research.
“The goal is to improve care and bring hope to patients and families affected by these devastating diseases,” Asken said.
Additional UF investigators include College of Medicine Department of Neurology faculty members Bhavana Patel, D.O., an assistant professor, and Nikolaus McFarland, M.D., Ph.D., a clinical professor, along with David Vaillancourt, Ph.D., chair and distinguished professor of applied physiology and kinesiology at the College of Health and Human Performance.