Researchers at Cedars-Sinai have made a significant discovery that could change the way some cases of behavioral-variant frontotemporal dementia (bvFTD) are diagnosed and treated.
The study found that some patients who have been diagnosed with this form of dementia may actually be suffering from a condition caused by a cerebrospinal fluid (CSF) leak, which is treatable.
Behavioral-variant frontotemporal dementia (bvFTD) is a neurological disorder that affects the brain’s frontal and temporal lobes, leading to significant changes in personality, behavior, and the ability to manage daily activities.
Patients with bvFTD often lose control of their behavior, which can be distressing for both them and their families.
Cerebrospinal fluid (CSF) is a clear, protective fluid that surrounds the brain and spinal cord, cushioning them from injury. In some cases, this fluid can leak out of its protective membrane, causing the brain to sag.
When the brain sags, it can lead to symptoms that mimic dementia, such as memory problems, confusion, and changes in behavior. However, many patients with brain sagging caused by a CSF leak go undiagnosed because the condition can be difficult to detect.
The Cedars-Sinai study highlights the importance of considering a CSF leak as a possible cause in patients with bvFTD-like symptoms, especially if they have certain signs.
The researchers suggest that doctors should be vigilant for symptoms such as severe headaches that improve when lying down, excessive daytime sleepiness despite adequate sleep at night, and a history of being diagnosed with a Chiari brain malformation, which is a condition where brain tissue extends into the spinal canal.
Diagnosing a CSF leak can be challenging because the leak can be difficult to locate. Normally, when CSF leaks through a tear or cyst in the membrane surrounding the brain or spinal cord, it can be detected using a CT myelogram, which is an imaging test that uses a contrast dye to make the leak visible.
However, the Cedars-Sinai team discovered that in some cases, the CSF may leak into a vein, which makes it nearly impossible to detect using standard imaging techniques.
To identify these elusive leaks, the researchers used a specialized CT scan that tracks the movement of the contrast dye as it flows through the cerebrospinal fluid.
In their study, they applied this technique to 21 patients who were experiencing brain sagging and bvFTD symptoms. Remarkably, they found CSF-venous fistulas—an abnormal connection between the CSF and a vein—in nine of these patients.
Once these fistulas were identified, the patients underwent surgery to close the leaks. The results were dramatic: all nine patients saw their brain sagging and dementia-like symptoms completely reverse after the surgery.
The remaining 12 patients in the study, whose CSF leaks could not be located, were treated with other therapies aimed at relieving brain sagging.
These included implantable systems that continuously infuse the patient with CSF. Unfortunately, only three of these patients experienced any significant relief from their symptoms.
This research is a game-changer because it suggests that some people diagnosed with bvFTD might actually have a treatable condition.
If doctors are aware of the potential for a CSF leak and use the right imaging techniques, they may be able to correctly diagnose and treat these patients, potentially reversing what would otherwise be considered a progressive and untreatable dementia.
The study, led by Dr. Wouter Schievink and his team, was published in the journal Alzheimer’s & Dementia: Translational Research and Clinical Interventions.
This breakthrough emphasizes the need for more comprehensive diagnostic approaches in patients with bvFTD-like symptoms, offering hope to those who might otherwise face a grim prognosis.
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