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  • Writer's picturePenn FTD Center

RECAP: 2023 Familial Conference: Uncovering the Genetics of FTD/ALS

The Penn FTD Center recently hosted our third annual Familial FTD/ALS Conference. Here, we share some highlights. If you missed the conference or want to re-watch it, the recording can be found here.

Dr. David Irwin kicked off our recent Familial FTD/ALS Conference by exploring the topic, “What is FTD?”

Two causes of dementia: FTD and AD

Frontotemporal degeneration (FTD) is a form of dementia. Dementia is an umbrella term for any type of cognitive impairment that limits a person’s ability to function. There is more than one type of dementia. Many people have heard of the type of dementia called Alzheimer’s disease (AD), which is the most common. The most prominent feature of AD is memory loss, caused by the buildup of proteins in the brain called plaques (beta-Amyloid) and tangles (tau). An important distinction between AD and FTD is that FTD is caused by different proteins building up in the brain, including tau or TDP-43.

FTD is a progressive condition that is a common cause of young-onset dementia. On average, people live with FTD for about 7 years. The symptoms that people experience can vary drastically, including social/behavioral, memory and language problems. People with FTD can also experience motor symptoms like Parkinsonism, tremor, difficulty with balance, slowness, rigidity, weakness, muscle atrophy, and spasticity.

The FTD/ALS spectrum and genetic causes

Dr. Irwin explained that there is a strong overlap with FTD and amyotrophic lateral sclerosis (ALS), a neurodegenerative condition that can cause symptoms such as weakness, muscle loss, trouble speaking, and trouble swallowing. People live with ALS for an average of about 3.5 years. The average age of onset for ALS is ~65 years of age but can start in young adulthood all the way through someone’s 80s or 90s. ALS is a bit more common in men than women. About 15% of patients with ALS also have FTD, and up to 50% have some form of cognitive impairment. ALS is typically caused by the protein TDP-43, which is also a protein that often causes FTD.

We learned from our genetic counselor, Laynie Dratch, that sometimes ALS and FTD can be caused by a genetic variant, or mutation. There are many genes (over 30!) that can cause ALS/FTD spectrum disorders. Most genetic forms of ALS and FTD follow an autosomal dominant inheritance pattern, with a 50% chance of each child inheriting the genetic variant from an affected parent. When there is a family history of ALS, FTD, or related conditions, the chances of a genetic cause are much higher.

Genetic counseling and other resources

Anyone who wants a genetic counseling appointment for any reason should have one, whether or not they want to go through with genetic testing or learn their results.

People with ALS and FTD consider genetic testing for many different reasons. Some of the most common reasons are to gather information that could help with medical management, to see if there are any research trials that are a good fit, to understand why the condition developed, and to provide information about risk to family members. When family members who are not symptomatic want to better understand their risk of developing ALS or FTD, sometimes they will consider having predictive genetic testing.

During the conference, we heard from a few individuals who shared their experiences with predictive genetic counseling and testing. There are some people who feel genetic testing is not right for them; it is always optional. There are many different options for genetic counseling and testing, and those who want to learn more should reach out to a genetic counselor near them ( or ask their physician for a referral. Genetic counselors Kelsey Johnson and Rachel Paul shared some information about the special considerations for reproductive planning when there is a known genetic cause of ALS/FTD spectrum disorders in the family. The biggest take-home point: if you have questions about reproductive planning, you will have the most options available to you if you meet with a genetic counselor prior to conceiving a pregnancy.

Our social worker, Kate Lietz, and genetic counselor Aaron Baldwin emphasized the importance of finding good support, for patients, care partners, and others alike. Support systems can vary, and it may take some time to figure out which types of support you and your loved ones most benefit from. When trying to identify support, it can be helpful to make a list of things you feel you need an extra hand with and sorting them into categories of physical, emotional, and social needs. Some things to consider when looking for the best methods of support for you include which kinds of support have been helpful for you in the past, who in your life have you been able to confide in, how did your past support approaches help you, and how have your support techniques changed over time? Some tools for finding support can be found on our blog or by connecting with your local Area Agency on Aging and Disability, speaking with your provider, locating a home care agency, connecting with a support group, or finding a counselor or therapist. It is important to know that you are not alone, and everyone at the FTDC wants to help in any way they can. Please reach out to us if you feel in need of support.

Research and clinical trials in FTD/ALS

We currently do not have a cure for FTD/ALS spectrum conditions, though research is actively searching for new approaches to treatment. We heard from research coordinator, Julia Kwiecinski, about the many observational research studies we conduct here at Penn. Most people with a diagnosis of an ALS/FTD spectrum disorder are eligible for observational research. Observational research involves collecting data from large amounts of people over time; it is essentially scientists watching and learning. This helps us gain an understanding of the causes and natural course of the conditions, which will help us to develop therapies and diagnostic tests. To learn more about observational research and join one of our studies, please reach out to one of our team of coordinators to set up a consent appointment and screening. You can view our studies and the contact information for our coordinators on our website, here.

We also were joined by Dahlia Kamel, who manages our clinical trials team, Dr. Colin Quinn, who leads several ALS trials, as well as several individuals who have been involved with participation in clinical trials. Clinical trials are studies that involve the provision of an intervention (like a drug). We currently have several gene-specific clinical trials for ALS/FTD spectrum disorders. You can learn more about our clinical trials here.

We hope you found this year’s conference to be valuable, and we look forward to planning the 2024 event – date TBD so stay tuned!



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