A new study from Cedars-Sinai has given hope to people who have been diagnosed with a serious form of dementia.
The research suggests that some patients believed to have behavioral-variant frontotemporal dementia, often called bvFTD, may actually have a very different medical problem that can be treated. The study was published in the journal Alzheimer’s & Dementia: Translational Research and Clinical Interventions.
Dementia is a general term for diseases that slowly damage the brain and affect memory, thinking, personality, and daily life. Behavioral-variant frontotemporal dementia is one of the most challenging types because it mainly changes a person’s behavior, emotions, judgment, and personality rather than memory in the early stages.
People may become impulsive, lose empathy, act in unusual ways, or struggle to make good decisions. Because the disease is usually thought to be progressive, patients and families are often told that there is no cure.
The new research shows that this is not always the case. In some patients, the symptoms may not be caused by permanent damage to brain cells. Instead, they may result from a leak of cerebrospinal fluid. This clear fluid surrounds the brain and spinal cord. It cushions the brain, carries nutrients, and helps remove waste.
When some of this fluid escapes through a leak, the brain can slowly sink lower inside the skull. This is sometimes called brain sagging. As the brain changes position, people can develop symptoms that closely resemble dementia.
Because the symptoms are so similar, the real cause may be missed. Many patients experience changes in memory, thinking, personality, mood, and behavior. Some also develop headaches that become worse when standing but improve after lying down.
Others feel unusually tired even after getting enough sleep. Some have previously been told they have a condition called a Chiari malformation, although the real problem may be a hidden fluid leak.
Doctors usually search for leaks using a CT myelogram. However, the Cedars-Sinai team found that this standard test can miss an important type of leak known as a cerebrospinal fluid-venous fistula. In this condition, the fluid drains directly into nearby veins instead of collecting where doctors normally expect to find it.
To improve detection, the researchers used a more advanced CT imaging method that tracked a special contrast dye as it moved through the spinal fluid. This allowed them to find leaks that standard scans could not see.
The researchers studied 21 patients who had both brain sagging and symptoms that looked like behavioral-variant frontotemporal dementia.
Using the advanced scan, they found hidden cerebrospinal fluid-venous fistulas in nine patients. Surgeons repaired each leak. After treatment, all nine patients recovered remarkably well. Their brains returned to their normal position, and their thinking, mood, personality, and behavior improved. Their dementia-like symptoms disappeared.
The remaining 12 patients did not have a leak that could be clearly identified. Doctors tried more general treatments designed to reduce brain sagging, but only three patients improved.
This result suggests that finding the exact location of the leak is very important. When doctors know exactly where the fluid is escaping, treatment is much more likely to succeed.
The findings remind doctors that not every patient with dementia-like symptoms has a disease that destroys brain cells. Although true frontotemporal dementia remains a serious condition without a cure, some people may have a different disorder that only looks like dementia.
Careful medical history, attention to warning signs, and better imaging tests can help identify these patients.
This discovery could have a major impact on patient care. People who would otherwise receive a devastating diagnosis may instead be offered further testing that leads to effective treatment. Families may also benefit by learning that symptoms can sometimes be reversed rather than becoming worse over time.
The researchers hope more hospitals will consider hidden cerebrospinal fluid leaks when patients develop unusual changes in behavior, thinking, or personality together with signs of brain sagging.
More research is still needed to understand how many people with dementia-like symptoms actually have this treatable condition. Even so, the study highlights the importance of looking beyond the most obvious diagnosis. Sometimes a careful search for an underlying cause can completely change a person’s future.
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