Scientists Exploring FTD's Characteristics

Even among the researchers who spend their days studying FTD, much remains a mystery.
"It's only been in the last few years that it's been recognized as a distinct dementia," says Miller. "It is still a very poorly understood disease."

For example, Miller notes, while an inherited component to the disease was recently identified, very little is known about factors beyond genetics that predispose individuals to a higher risk. In addition, the way physicians diagnose frontotemporal dementias remains in flux. And, while many patients first present symptoms of the dementia in their 50s and 60s, it appears quite possible that in some or even most of these patients, the degeneration begins, slowly and subtly, long before that. Miller explains that researchers still need to get a handle on initial manifestations that might enable the disease to be diagnosed far earlier, and contribute to a better understanding of its pathology.

Certain differences in the pathologies of Alzheimer's disease and frontotemporal dementias are becoming clearer. Alzheimer's disease typically starts in the parietal lobes of the back half of the brain, and the amyloid plaques and neurofibrillary tangles characteristic in Alzheimer's patients tend to spread all over the brain by the time the individual dies. In frontotemporal dementia patients, the concentration of damage remains, for the most part, in the frontal and anterior temporal lobes.

Experts believe a major breakthrough in research on frontotemporal disease occurred last year with the discovery that in some patients, there is a distinct genetic mutation on chromosome 17, responsible for abnormal depositions of the tau protein. The abnormal tau (seen in some but not all frontotemporal dementia patients) can lead to Pick bodies; in other cases the destruction of neurons takes a different form. As many as 20 different tau mutations have been associated with frontotemporal dementia. The identification of these mutations represents a giant leap forward for researchers because it enables them to create laboratory models of the disease and begin to experiment with therapies.

Neuropsychologists are comparing the psychological profiles of frontotemporal and Alzheimer's patients, conducting studies in which they administer the same cognitive tests to both groups. "These patients offer a window into what parts of the brain are necessary to perform particular tasks," notes Chow. At the same time, Chow and her colleagues at UCLA are analyzing data from a large group of patients in an effort to pinpoint the risk factors for the primary progressive aphasia subtypes of frontotemporal dementia. At UC San Francisco, Mychack has begun a rehabilitation program that educates family members and works with FTD patients on recognizing social cues.

"From the beginning, these individuals have difficulty comprehending other people's emotional expressions and vocal intonations, and in turn they can't express themselves correctly," Mychack explains. "They often will took very flat and blank, or confrontational, and these expressions are misinterpreted, leading them to become isolated." While the program has just begun, Mychack has already seen small improvements in the patients' social skills.

First National FTD Conference

Through the Orange County Alzheimer's Association, Price recently attended the first national conference involving frontotemporal dementia researchers and caregivers, and she is heartened by the strides being made in understanding the disease. But sadly, she knows that it's too late for any of this to help her husband, who was diagnosed nearly a decade ago, hasn't spoken in more than two years and no longer resembles the person he was before the first symptoms took hold.

"My husband was the positive and patient person of the family," says Price. "He loved his students and, when he was forced to retire early from his coaching/teaching position at the junior college, he was devastated.