“Yes, doctor. My dad’s first fall was on his 65th birthday. He stood in the driveway and suddenly dropped backwards on his back. After he fell two more times, we came to the clinic.”
The symptoms the patient’s son described didn’t fit the usual diagnosis of Parkinson’s disease. The family noted mood changes, including outbursts of anger. When the patient tried reading, the words “jumped” at him. Instead of looking down the page with his eyes, he moved his entire head. While his hands didn’t shake, he noticeably moved around more slowly.
Dad was diagnosed with Parkinson’s. The doctors weren’t convinced this was the right diagnosis, but it was the best they could come up with. He was given medications for Parkinson’s. They treated his symptoms with physical therapy and blood thinners to prevent clots if he got injured from a fall. But his condition worsened, and he died within 10 years.
He had been misdiagnosed. He actually had progressive supranuclear palsy, a rare and aggressive neurodegenerative disease with similar symptoms to Parkinson’s. The late Rev. Jesse Jackson, who died on Feb. 17, 2026, at age 84, had a similar experience of misdiagnosis.
About 6 to 10 in 100,000 people are affected by progressive supranuclear palsy, totaling around 30,000 patients in the United States. But because this disease is often misdiagnosed, the real numbers are likely higher. It shares similar symptoms with Parkinson’s, making it very challenging to distinguish between the two. In fact, PSP is also called atypical parkinsonism. Moreover, the brain cells of people with PSP share similar pathological signs with 20 other neurodegenerative disorders.
Progressive supranuclear palsy significantly reduces a person’s ability to function.
There are no biological tests to screen for progressive supranuclear palsy and no therapies specifically for this disease. Patients like Jackson are stuck with treatments that don’t improve their quality of life. In our recently published research, my neuroscience lab identified a potential biomarker that could help change how doctors approach this disease.
Genetics of progressive supranuclear palsy
Rare genetic changes can increase someone’s risk of developing progressive supranuclear palsy.
For example, researchers found that a single mutation on the gene coding for the stress sensor protein PERK increases a person’s risk of developing the disease. PERK helps relieve stress from a part of the cell that acts as a warehouse for newly made proteins. When the cell becomes stressed, PERK dials down the production of new proteins and gives this warehouse time to recover.
Many labs worked to find why this single change in DNA could unleash a devastating life sentence. My team and I had previously found that alterations in a key protein involved in neurodegenerative diseases, tau, can activate PERK, which further…
