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 genetics research studies, is involved in gene therapy trials for FTD, is a site for consortia studies such as ALLFTD, and offers clinical genetic counseling services.
There are many genes that can cause FTD, but the three most common genetic causes are pathogenic variants in the C9orf72, GRN, and MAPT genes. Although it is possible to have a genetic cause of FTD when nobody else in the family has had FTD or related conditions, it is more likely to find a genetic cause when there is family history of neurologic disease.
There are many potential benefits of genetic testing both for the person diagnosed as well as for the family. However, there are also limitations and important considerations. 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.
There are two main ways to meet a genetic counselor:
Schedule a clinical appointment
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’s “find a genetic counselor” tool: https://findageneticcounselor.nsgc.org/
There are also some sponsored genetic testing programs for FTD, and some of these programs include the option to meet with a genetic counselor. For more information, see the article written by the FTD Disorders Registry: https://ftdregistry.org/press/sponsored-genetic-testing-programs-ftd
For answers to frequently asked questions about genetics and genetic counseling in FTD, please review these infographics the Penn FTD Center created in partnership with the FTD Disorders Registry:
Understanding the Genetics of FTD: https://ftdregistry.org/sites/default/files/atoms/files/Understanding-Genetics-FTD-FINAL.pdf
Who Should Consider Genetic Testing for FTD, and Why: https://ftdregistry.org/sites/default/files/atoms/files/Understanding-Who-Why-Genetic-Testing-FTD-FINAL.pdf
Understanding Genetic Testing: https://ftdregistry.org/sites/default/files/atoms/files/Understanding-Genetic-Testing-FINAL.pdf
Understanding Genetic Counseling: https://ftdregistry.org/sites/default/files/atoms/files/Understanding-Genetic-Counseling-FINAL.pdf
For an overview of the genetics of FTD-spectrum disorders check out the recordings of our annual Familial FTD/ALS Conference.
Check out this RARE Revolution Magazine interview with the Penn FTD Center’s genetic counselor, Laynie Dratch, ScM CGC, for some information about FTD genetic counseling and testing:
For other genetics resources, visit the following:
The Association for Frontotemporal Degeneration (AFTD)
The FTD Disorders Registry