Treatment and diagnosis of dementia

The presence of PRGN mutations or decreased PRGN mRNA or protein levels can be used as a diagnostic method for dementia or disease risk for dementia.
In addition, increasing the levels of PRGN in patients at risk for dementia promises to be therapeutic.

Summary of the invention

A study identified dozens of mutations in the progranulin gene (PRGN) which are linked to dementia in patients suffering from either frontotemporal dementia (FTD) or Alzheimer´s disease.

Progranulin is a growth factor involved in multiple physiological and pathological processes, including tumorigenesis, and likely mediates neuronal survival. Null-mutations in PRGN, including insertions, deletions, and substitutions, in the coding and non-coding regions of PRGN reduce Progranulin levels through different mechanisms including the formation of premature stop-codons, splicing errors, frameshifts and misfolding.

PRGN haploinsufficiency was shown to lead to neurodegeneration and ubiquitin-immunoreactive neuronal inclusions, characteristic of FTDU-17.


Increasing the level of PRGN can be used therapeutically through

  • gene therapy,
  • administration of PRGN polypeptide or
  • medication with an agent, such as a peroxisome proliferator-activated receptor (PRAR) agonist in combination with non-steroid anti-inflammatory drug.  
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