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FTD & Genetics

Understanding the Importance of Knowing Your Genes

Genetic Testing

After someone is diagnosed with FTD, family members often have questions about whether they might also be at risk. A genetic counselor can review your personal medical background and family history to help clarify potential inherited risk. These specialists are trained to explain complex genetic information, discuss testing options, and provide support as you decide whether genetic testing is right for you.

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Sporadic FTD

In about 60% of individuals diagnosed with FTD, there is no known family history of FTD or related neurological conditions. This is often described as “apparently sporadic” FTD. In these cases, the underlying cause remains unclear. Even without a family history, genetic factors may still play a role. For this reason it is recommended that everyone diagnosed with FTD consider meeting with a genetic counselor and discussing the option of genetic testing.

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Familial FTD

Roughly 40% of people with FTD report a family history involving one or more blood relatives with FTD, a related neurological disorder such as ALS, another form of dementia, or progressive difficulties with language or movement. When this pattern is present, it is referred to as familial FTD.

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Genetic FTD

In families with a history of FTD, there is a higher chance of identifying a disease-causing genetic variant. Overall, about 20% of people diagnosed with FTD have a known genetic mutation linked to the disease. Variants in more than a dozen genes have been associated with FTD, though the most frequently involved genes are C9orf72, GRN, and MAPT. Ongoing research continues to uncover additional genes that may contribute to the development of FTD.

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Genetic Counseling

Accessing a genetic counselor in Canada usually begins with a referral from your family doctor (GP) or a specialist. Your doctor will evaluate whether a genetic consultation is appropriate based on your personal and family history and if they determine that a consultation is warranted, they will refer you to a genetics clinic for further assessment.

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