Update on recent molecular and genetic advances in frontotemporal lobar degeneration

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


Great strides have been made in the last 2 years in the field of frontotemporal lobar degeneration (FTLD), particularly with respect to the genetics and molecular biology of FTLD with ubiquitinated inclusions. It is now clear that most cases of familial FTLD with ubiquitinated inclusions have mutations in the progranulin gene, located on chromosome 17. It is also clear that most ubiquitinated inclusions in FTLD with ubiquitinated inclusions are composed primarily of TAR DNA-binding protein-43. Thus, FTLDs can be separated into 2 major groups (i.e. tauopathies and ubiquitinopathies), and most of the ubiquitinopathies can now be defined as TAR DNA-binding protein-43 proteinopathies. Many of the familial FTLDs are linked to chromosome 17, including both the familial tauopathies and the familial TAR DNA-binding protein-43 proteinopathies with progranulin mutations. This review highlights the neuropathologic features and the most important discoveries of the last 2 years and places these findings into the historical context of FTLD.

Original languageEnglish (US)
Pages (from-to)635-648
Number of pages14
JournalJournal of neuropathology and experimental neurology
Issue number7
StatePublished - Jul 2008


  • FTDP-17
  • FTLD-U
  • Frontotemporal lobar degeneration
  • Progranulin
  • TAR-DNA binding protein-43
  • Tauopathy
  • Ubiquitinopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Cellular and Molecular Neuroscience
  • Pathology and Forensic Medicine


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