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Clinicopathologic correlation in PGRN mutations.

S Davion1, N Johnson, S Weintraub

  • 1Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.

Neurology
|May 25, 2007
PubMed
Summary
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Progranulin (PGRN) gene mutations are linked to frontotemporal dementia (FTD) with specific brain inclusions. These mutations influence the location and type of pathological changes observed in FTD cases.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Frontotemporal dementia (FTD) is associated with the MAPT gene region on chromosome 17.
  • Some FTD cases lack MAPT mutations or tau deposits but show ubiquitin-positive inclusions.
  • Progranulin (PGRN) gene mutations, located at 17q21.31, are identified in some FTD patients.

Observation:

  • PGRN mutation analysis was conducted in 12 individuals.
  • Clinical and pathological findings were compared between PGRN mutation-positive and negative cases.
  • Ubiquitinated neuronal inclusions (NIs) were present in most cases, regardless of PGRN mutation status.

Findings:

  • PGRN mutations were identified in four patients with FTD or primary progressive aphasia (PPA).
  • Cases with PGRN mutations showed distinct patterns of neuronal cytoplasmic inclusions (NCIs) and neuronal intranuclear inclusions (NIIs).

Related Experiment Videos

  • Differences included more frequent frontal NCIs and striatal NIIs in PGRN mutation-positive cases compared to FTD with ubiquitin (FTLD-U) cases without PGRN mutations.

    • Implications:

    • PGRN mutations can be found in sporadic FTD with ubiquitinated inclusions, PPA, and behavioral variant FTD.
    • The presence of ubiquitinated NIs is not exclusive to PGRN mutations.
    • Clinicopathological differences exist between FTD cases with and without PGRN mutations, highlighting genetic and pathological heterogeneity.