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FTD Genetics

Our understanding of the genetics of frontotemporal degeneration (FTD) and related conditions such as amyotrophic lateral sclerosis (ALS) is advancing rapidly, and the Penn FTD Center is at the forefront of clinical genetics research. The Penn FTD Center conducts several FTD research studies that involve genetic analysis, is a site for consortia studies that include the option for genetic counseling and testing such as ALLFTD, is involved in gene-targeted clinical trials for FTD, and offers clinical genetic counseling services.

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There are many genes that can cause FTD, but pathogenic variants (“mutations”) in three genes are most common:  C9orf72, GRN, and MAPT. Although it is possible to have a genetic cause of FTD when nobody else in the family has had FTD or related conditions such as amyotrophic lateral sclerosis (ALS), Parkinson disease (PD), or early onset Alzheimer’s disease (AD), it is more likely to find a genetic cause when there is family history of neurologic disease.

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There are many potential benefits of genetic counseling both for the person diagnosed as well as for the family. However, there are also limitations and important considerations when pursuing genetic testing. Meeting with a genetic counselor is recommended for any individual with questions about the genetics of FTD or the implications for the family. Having a conversation with a genetic counselor does not mean that you have to move forward with genetic testing.

Three Ways to Access Genetic Testing

1. Schedule a Clinical Appointment for Genetic Counseling

  • To schedule a visit with a genetic counselor at Penn Neurology, call 215-662-3606  and request a neurogenetics appointment.​

  • Ask your neurologist to refer you to a genetic counselor.

  • To find a genetic counselor near you, use the National Society of Genetic Counselor Tool below. Genetic counselors with expertise in FTD can be located by downloading the Frontotemporal Degeneration Genetic Counseling Directory.

2. Participate in a Research Study that includes Genetic Counseling

  • Some observational research studies include the option for genetic counseling and testing. Sometimes, you can participate in these studies even if you don’t want to learn your own genetic testing results. If interested in observational research, click here.

  • Some clinical trials provide the opportunity to have genetic counseling and testing as part of their screening/enrollment procedures. To learn more about clinical trials, visit our webpage here.

  • Other studies can be identified by reviewing clinicaltrials.gov

3. Consider participating in a sponsored genetic testing program

Resources

The Association for Frontotemporal Degeneration (AFTD)

Use the links below to review helpful information from the AFTD

Patient Advocacy Groups for Genetic FTD

Penn FTD Center Familial FTD/ALS Conference

To view recordings of the past Penn Familial FTD/ALS Conferences, click below:

Podcast Episodes

Age of Aging Podcast, Do I Want to Know? (2024, July):

​The Reflective Mind Podcast, Genetic Counseling (2023, Dec):

Remember Me Podcast, What is it like to work with a genetic counselor? (2023, April):

Webinars on Topics Related to FTD Genetic Testing

AFTD 2022 Education Conference: Navigating the Uncertainty of Familial FTD

AFTD Webinar Series 2024: Navigating Social and Legal Challenges in Familial FTD

Penn Memory Center Empowering Caregivers Series, “A Conversation with a Genetic Counselor: Could the Dementia in My Family be Genetic?”

For information about clinical trials (interventional research studies) for genetic forms of FTD at the Penn FTD Center, please visit our Clinical Trials webpage linked below

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