Alzheimer’s disease and related diseases can still only be confirmed in deceased patients’ brains via autopsy. Even so, the development of biomarkers can give patients and their families answers during life: Alzheimer’s disease can be accurately detected via peptides and proteins in a patient’s cerebrospinal fluids (CSF), which can be collected through a lumbar puncture and tested while the patient is alive.
In 2018, a new framework suggested combining three Alzheimer’s disease biomarkers in CSF—pathologic amyloid plaques (A), tangles (T), and neurodegeneration (N), collectively called ATN. According to recent research published in Alzheimer’s and Dementia: The Journal of the Alzheimer’s Association, from the Perelman School of Medicine, the ATN framework can be extended to detect another neurodegenerative condition: frontotemporal degeneration.
Patients with frontotemporal degeneration can experience a range of symptoms, including behavioral changes, executive dysfunction, and language impairments. Distinguishing frontotemporal degeneration from Alzheimer’s disease can be a challenge for clinicians: the symptoms of frontotemporal degeneration can sometimes overlap with Alzheimer’s disease, and a subset of patients can even have both pathologies. Biomarkers can fill the gap by providing evidence of whether Alzheimer’s pathology underlies a patient’s symptoms.
“CSF biomarkers work similarly to a pregnancy test, offering a simple positive or negative result when enough of a substance is detected. But like a pregnancy test, biomarkers for Alzheimer’s disease can provide false negatives or positives,” says lead investigator Katheryn A.Q. Cousins, a research associate in the Frontotemporal Degeneration Center in the Department of Neurology at Penn Medicine. “Alzheimer’s is a diverse disease, and it is common for other conditions to also be present in the brain. The ATN framework may provide a more complete look at a person’s diagnosis and give us a much richer understanding of not only Alzheimer’s disease, but other co-occurring neurodegenerative conditions. However, to accomplish this, additional biomarkers that can detect other neurodegenerative conditions are critically needed.”
This story is by Kelsey Odorczyk. Read more at Penn Medicine News.