FTD rare, irreversible, with early age of onset

Expert says diagnosis difficult, crucial with any form of dementia

Fans and followers of Hollywood icon Bruce Willis were shocked and saddened by the recent news of the actor’s diagnosis with frontotemporal dementia, or FTD, a rare form of dementia.

His family shared the diagnosis with the public to help raise awareness of this condition, releasing this statement about the 67-year-old Willis’ condition to the Association for Frontotemporal Degeneration:

“Since we announced Bruce’s diagnosis of aphasia in spring 2022, Bruce’s condition has progressed and we now have a more specific diagnosis: frontotemporal dementia (known as FTD),” the statement said in part. “Unfortunately, challenges with communication are just one symptom of the disease Bruce faces. While this is painful, it is a relief to finally have a clear diagnosis. FTD is a cruel disease that many of us have never heard of and can strike anyone.”

Those who have never heard of this condition may be wondering what it is — what are the symptoms, causes and treatments?

What is FTD and how rare is it?

“FTD is actually a group of brain disorders that cause progressive degeneration of the neurons in the brain and, as the name suggests, affects primarily the frontal lobe, located behind the forehead, and temporal areas, located behind the ears on each side, of the brain,” said Dr. Allison B. Reiss, associate professor, Departments of Medicine and Foundations of Medicine, NYU Long Island School of Medicine.

“It is irreversible and has a relatively young age of onset, most diagnosed between the ages of 45 and 64 years.”

The condition is rare, with about 50,000 to 60,000 people in the U.S. having been diagnosed with FTD, according to Reiss.

Different from other forms of dementia

“It occurs in younger persons; memory may remain intact until late in the disease, while memory impairment is often seen early in Alzheimer’s disease. In FTD, there is no accumulation of amyloid protein, which is a key feature of Alzheimer’s disease,” Reiss said.

She stressed the importance of determining the correct diagnosis with any type of dementia, but especially with FTD, because “acetylcholinesterase inhibitors often used in patients with Alzheimer’s can lead to worsening of symptoms in those with FTD.”

“Sometimes FTD and Alzheimer’s look similar because they share areas of the brain that are affected. There is even a frontal or behavioral variant of Alzheimer’s disease. Sometimes it can be hard to tell the difference unless you see the brain pathology or markers for it,” said Dr. Marc Haut, director of the Memory Health Clinic at the Rockefeller Neuroscience Institute.

How is FTD diagnosed?

Definitively diagnosing FTD presents some significant challenges.

“Since it overlaps in symptoms with a number of other disorders, especially early on, the diagnosis is difficult,” Reiss said. “The patient may be subjected to a lot of neurologic and neuropsychiatric testing: The symptoms along with brain imaging and eliminating other causes of the changes in behavior — stroke, infection, head trauma — can eventually lead to the diagnosis. There is no specific biomarker to give us a diagnosis. MRI may reveal that the brain has undergone shrinkage in the key areas, and this is a good indication.”

Is there any treatment or cure?

“Unfortunately, no. There is no cure for FTD, and we cannot slow its progress. Although no medications are effective in changing the course of FTD, many clinicians prescribe symptomatic treatments to minimize behavioral disturbances as necessary,” Reiss said. “Selective serotonin reuptake inhibitors may help. Behavior modification techniques and, if necessary, antipsychotic medications can help.”

What is the typical prognosis?

The outlook for FTD is currently not very promising.

“Life expectancy is about eight to 10 years from diagnosis. FTD and Alzheimer’s all end similarly with language and behavior profoundly affected and memory dramatically reduced as well,” Reiss said.

What are the symptoms?

According to Reiss, there is a spectrum of symptoms with FTD, in three categories:

1. Behavioral variant FTD, which is the most common: Marked changes in behavior, deterioration of personality, executive, and social cognition. Social disinhibition, apathy, reduced sympathy and empathy, poor judgment, altered food preferences, and repetitive behavior. Relatively fewer memory problems. There may be emotional outbursts and excessive familiarity with strangers.

2. Semantic variant, also known as semantic variant primary progressive aphasia: Deficits in naming and comprehension. Difficulty with language in the early stages of the disease. Over time, people lose the meaning of words and lose the ability to remember what a familiar object is or how to use it. They may substitute a word they have lost with “that thing” or “the you know.” People with SVPPA go on to show at least some of the behavioral problems seen in the behavioral variant of FTD.

3. Nonfluent aphasic variant: It takes a lot of effort to speak. Speech is nonfluent, and grammar is poor with impaired comprehension of complex sentences. There is halting speech with sound errors.

What causes FTD?

“The cause is unknown, except in some rare inherited cases related to specific gene mutations,” Reiss said. “More research is needed.”

Vianney Le Caer The Associated Press The family of actor Bruce Willis, shown at the London premiere of the movie “Glass” in 2019, recently announced his diagnosis with frontotemporal dementia.