Discover how variants in the progranulin (GRN) gene lead to FTD and how research is advancing toward earlier detection and new treatments.
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.
Variants 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.
When the body doesn’t produce enough progranulin, harmful proteins, such as TDP-43, can build up inside brain cells, and inflammation can increase. Over time, this leads to damage and shrinkage (atrophy) in parts of the brain that control thinking, behavior, and language. These changes are closely tied to the symptoms of frontotemporal dementia (FTD).
Variants in the GRN gene are one of the more common known genetic causes of FTD. Genetic testing can confirm if there is a change in the GRN gene. Researchers are also working on new blood tests, called biomarkers, that may help detect FTD earlier and more accurately.
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.
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.
Diagnosis of Progranulin-related FTD often requires a multidisciplinary approach involving neurologists, geneticists, and sometimes psychiatrists.
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.
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