Science Spotlight

Understanding the Link Between
Progranulin and FTD

Discover how low progranulin levels—often caused by GRN gene mutations—lead to FTD, and how research is advancing toward earlier detection and new treatments.

What is
Progranulin?

Progranulin (PGRN) is a vital protein that supports cell growth, manages inflammation, and helps keep brain cells healthy. It plays a key role in protecting neurons, repairing cell damage, and clearing out waste—especially in parts of the brain involved in thinking, behavior, and language.

How is Progranulin
Linked to FTD?

Mutations in the GRN gene, which provides instructions for making progranulin, can lead to lower levels of this essential protein. When progranulin is reduced, it can cause brain cell damage that leads to frontotemporal dementia (FTD)—a progressive condition that affects personality, language, and behavior.

Progranulin Deficiency &
Brain Disease

When the body doesn’t produce enough progranulin, toxic protein build-up can occur inside brain cells, leading to damage over time. inflammation increases, and brain atrophy can occur—especially in areas that control thinking and language. These changes are closely linked to the symptoms seen in FTD.

Genetic & Diagnostic
Insights

Mutations in the GRN gene are among the most common known genetic causes of FTD. Blood tests and genetic screening can help detect low progranulin levels. Researchers are also developing biomarkers that may help identify the disease earlier and more accurately.

Therapeutic Approaches
Targeting Progranulin

Scientists are actively exploring therapies aimed at boosting progranulin levels. These include gene therapies designed to restore GRN function, medications that stimulate progranulin production, and anti-inflammatory treatments that help protect brain cells from further damage.

Hope Through Research
& Advocacy

Continued progress in research and patient advocacy is bringing hope to individuals and families affected by FTD. These efforts are helping to accelerate the development of treatments and improve care for those living with progranulin-related FTD.


Diagnostic Deep Dive

How Is It Diagnosed?

Diagnosis of Progranulin-related FTD often requires a multidisciplinary approach involving neurologists, geneticists, and sometimes psychiatrists.

Clinical Evaluation
Family History
Genetic Testing
Imaging Studies
Pathological Confirmation
The Testing Journey

Considering Genetic Testing

Understanding if there is a genetic cause to the FTD in your family is a deeply personal decision.  Genetic testing can help identify who in the family is at risk, allow you and your family members to plan for the future and may open doors to clinical trials.

Individuals or families interested in genetic testing should talk to their healthcare provider to find a genetic counselor with experience in FTD or access free genetic counseling and testing through the Progranulin Information Navigator.

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Family Lens

Impact on Families

A diagnosis of GRN-FTD deeply affects entire families, as loved ones endure the devastating progression of symptoms while grappling with the possibility of their own future diagnosis. The emotional, physical, and cognitive toll is compounded by frequent misdiagnoses and a lack of effective treatments. Joining together as a community allows us to share our stories and shine a light on the urgent need for support, research, and awareness for this overlooked community.

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