AFTD HelpLine

Diagnostic visits can be challenging to confront for the person diagnosed and their care partner. However, a comprehensive neurological evaluation is necessary to make an accurate diagnosis. There are no biomarkers yet for FTD, and there is no single test that can diagnose it with certainty in a living person, outside of occasional genetic causes (Genetics of FTD). Specialists must make a determination based on the person’s history, the results of a variety of neurological, neuropsychological and imaging tests, and on changes in behavior, personality, language and/or movement. 

Write down and be prepared to describe in detail any changes you have noticed. Because FTD is still not a well-known condition and can be difficult to diagnose, advocacy will be important. 

The best medical specialist to evaluate cognitive and behavioral changes will be a neurologist, behavioral neurologist or neuropsychologist. If a local physician suspects FTD, you may wish to consult a university medical center or a memory and cognitive disorders clinic in your region that is equipped to provide the comprehensive evaluation needed. Visit our Diagnosing FTD page for more information on the types of testing done as part of a comprehensive evaluation. 

FTD can be an overwhelming diagnosis to confront. The resources and information on AFTD’s website can help you learn about the disease and ways to maintain quality of life as you face a diagnosis. 

Our page for individuals and care partners facing a new diagnosis is the best place to start. It includes a link to our booklet, The Doctor Thinks it’s FTD. Now What? A Guide for Managing a New Diagnosis. Take your time reading the various sections, and don’t hesitate to contact our HelpLine via email at info@theaftd.org or by phone at 866-507-7222 with follow-up questions. 

The most reliable estimates suggest that between 50,000 and 60,000 people in the U.S. have FTD, based on a 2011 Journal of Molecular Neurology review by Dr. David Knopman and Dr. Rosebud Roberts. However, due to the difficulty in diagnosing FTD, as well as clinicians’ unfamiliarity with FTD relative to Alzheimer’s, experts in the field believe this figure may be an underestimate.

Pick’s disease was the original name given to what is now known as a group of disorders.  It was named after Arnold Pick, a colleague of Alois Alzheimer, who described the clinical features of what we now know as frontotemporal dementia at the turn of the 20th century. The term “Pick’s disease” is still sometimes used for the subtype now most often called behavioral variant frontotemporal dementia (bvFTD), where behavior and personality changes are prominent.

Researchers are actively looking into the possible relationship between traumatic brain injury (TBI) and neurodegenerative disorders. Studies have shown that repeated concussions can lead to a progressive brain disorder known as chronic traumatic encephalopathy (CTE). People with CTE can behave aggressively and impulsively, similar to those diagnosed with FTD disorders, particularly behavioral variant FTD. Both CTE and FTD ultimately progress to dementia, and the protein tau accumulates in unusual levels in the brains of people with both conditions (as well as in Alzheimer’s disease). 

However, there are important clinical and pathological differences between CTE and FTD, and most people who develop FTD have no history of TBI. More research is needed before we can determine if brain injuries may be a risk factor for FTD. 

Currently, we know very little about the risk factors that contribute to the development of FTD disorders. This includes the effect – if any – of environmental factors such as diet, stress, smoking, alcohol and drug use, or exposure to chemicals and toxins. FTD is sporadic in the majority of affected people, meaning they lack a relevant genetic mutation or even a family history of the disorder. (Visit the Genetics of FTD for more information) For these individuals, FTD may be caused by an interaction between genetic and environmental risk factors. Although each factor by itself may have only a very small effect on the risk of developing FTD, the presence of multiple risk factors may have a cumulative impact. More research is needed to better understand the role of environmental factors in the FTD disease process. 

The term dementia is a general term referring to impaired cognitive abilities that interfere with daily life. Under the umbrella of dementia, there are several types.  The most common is Alzheimer’s Disease but it also includes vascular dementia, dementia with Lewy bodies, frontotemporal dementia and mixed dementia.  Degeneration refers to the process in the brain that causes symptoms through the progressive degeneration and loss of nerve cells.   

The AFTD uses the term “degeneration” in our name as it refers to a group of neurodegenerative disorders that present with a wide variety of clinical features and symptoms, but share a common neuro-chemical basis involving the frontal and/or temporal lobes of the brain. The term degeneration is more specific and inclusive of the range of stages and diagnoses in this group of disorders.  However, it remains that the terms frontotemporal dementia, frontotemporal degeneration and frontotemporal lobar degeneration are often used interchangeably by health professionals and others.   

When assessing the possibility that FTD could be inherited in your family, it’s important to understand at least half of people diagnosed have simplex or "apparently sporadic" FTD. Simplex FTD describes people with no known family history of dementia or neurodegenerative illness.

Approximately 40% of people diagnosed with FTD have a family history suggestive of an inherited cause. The family history includes relatives with dementia, a major psychiatric condition, or progressive challenges with language or movement.

A subset of people with familial FTD have a genetic cause, meaning a parent passes a genetic variant associated with FTD to their child. All known genetic forms of FTD are autosomal dominant, meaning that if a person has genetic FTD, their children and siblings have a 50% chance to have inherited the same genetic risk for FTD. While variants in more than a dozen genes can cause FTD, the most common are genes are C9orf72, GRN, and MAPT.

Family history doesn’t always tell the whole story. FTD can present with a wide variety of symptoms, and is frequently misdiagnosed even today. These factors can make it difficult to have a complete understanding of prior family history of the disease. In fact, research demonstrates a small but significant percentage of people with no family history of FTD have an identifiable genetic cause underlying their FTD diagnosis.

Genetic testing is the only way to know if there is a genetic cause for FTD in the family. Prior to genetic testing, AFTD strongly recommends meeting with a genetic counselor to understand the genetics of FTD and review your situation and potential risk.

There are currently no approved therapeutic agents that can stop or slow the progression of FTD. However, there are pharmacologic, behavioral and even environmental interventions that can aid in symptom management. The page Treating FTD discusses medications used in treating FTD symptoms, and AFTD’s Partners in FTD Care newsletters describe how practical interventions can help manage certain challenging symptoms. Meanwhile, research is ongoing. Clinical trials are actively seeking people with specific types of FTD to participate in studies to test experimental treatments. Join the FTD Disorders Registry (ftdregistry.org) or visit Studies Seeking Participants | AFTD (theaftd.org) to learn about options.

A lack of insight into one’s condition is known formally as “anosognosia,” and is a common, albeit not universal, symptom of FTD, particularly its behavioral variant. People with anosognosia are unaware of their disease and cannot understand its impact on others. It differs from denial, which is a coping mechanism employed to confront an unpleasant or painful situation. Rather, anosognosia results from physical changes to the brain, and tends to worsen as the disease progresses. People with anosognosia may function normally in some areas of their lives, yet engage in risky and seemingly callous behaviors because they do not recognize their actions as problematic. 

Having a loved one refuse to acknowledge their condition can be incredibly frustrating. Caregivers and care partners should try their best to remember that their loved one is not being manipulative or deceitful; this lack of awareness of their changing behavior is a symptom of the disease. Care partners can take steps such as: 

• Disabling the internet to prevent financial losses 
• Removing weapons 
• Hiding food and/or car keys 
• Opening new limited-access bank accounts, etc. to preclude risky behaviors or at least minimize the harm. 

Avoid trying to convince the person with FTD that they have a disease. Anosognosia cannot be treated by argument or persuasion; this usually just leads to frustration, agitation and aggression. 

Additionally, anosognosia is one of the main reasons people with FTD refuse medical care, which can be particularly problematic prior to a diagnosis. Consider creative, indirect ways to have the patient seen by a healthcare provider if they resist. For example, some persons with FTD will agree to see a provider if you tell them that it is necessary to keep their insurance benefits, or to refill medications they take for a different condition. Keep the explanation as simple as possible. 

The Winter 2019 issue of AFTD’s Partners in FTD Care takes a comprehensive look at anosognosia and offers strategies for providing care for someone who exhibits it. 

Driving is a complex skill requiring higher cognitive functioning; unimpaired vision, motor control, and coordination; and an ability to maintain attention. FTD can degrade each of those areas causing a significant safety risk. Additionally, symptoms of FTD that may be less immediately apparent and present earlier in the disease process, such as impaired judgment and disinhibition, correlate with poorer driving ability. Families may struggle with the idea that their loved ones with FTD appear to retain the physical ability to drive, yet still encounter difficult situations on the road. Often, this is due to those less apparent symptoms. 

Because persons with FTD may insist that they are still able to drive – indeed, they may not even be aware that they have FTD – care partners often face the difficult decision of when and how to take away their keys. Convincing them to voluntarily stop driving will likely not work. Many families find it helpful to turn to their loved one’s physician for their recommendation. Taking an independent driving evaluation, whether through a DMV or driver-rehabilitation program, can demonstrate that driving with FTD has become too challenging. Make sure that the evaluator is aware that they will be driving with someone who has FTD beforehand. 

Consult AFTD’s Driving and FTD page for more information. 

FTD is not a single disease with an orderly sequence of stages; rather, it is an umbrella term for a range of disorders that affect the brain in diverse ways. In general, FTD initially affects one of three broad categories of functioning: executive ability and social behavior; language and communication; or muscle and body control. The initial presentation determines which of the FTD disorders a person is diagnosed with. As the disease progresses, difficulties in other categories of functioning may develop, but each person with FTD experiences these difficulties at a highly variable sequence and pace. (A saying common among people facing FTD is: “If you’ve seen one case of FTD… you’ve seen one case of FTD.”) 

Regardless of the initial diagnosis, the differences between the disorders blur over time. When FTD reaches its final stages, all persons diagnosed will require total care.