A novel GRN mutation (GRN c.708+6-+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: Clinicopathologic report of 6 cases

Esther N. Bit-Ivan, Eunran Suh, Hyung Sub Shim, Sandra Weintraub, Bradley T. Hyman, Steven E. Arnold, Elisabeth McCarty-Wood, Viviana M. Van Deerlin, Julie A. Schneider, John Q. Trojanowski, Matthew P. Frosch, Matt C. Baker, Rosa Rademakers, Marsel Mesulam, Eileen H. Bigio

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Understanding of frontotemporal lobar degeneration, the underlying pathology most often linked to the clinical diagnosis of frontotemporal dementia, is rapidly increasing. Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. Mutations in one of these genes (GRN), which encodes progranulin, have been implicated in up to a quarter of cases of frontotemporal lobar degeneration with TDP-43 (TAR DNA-binding protein 43)-positive inclusions; currently, there are more than 60 known pathogenic mutations of the gene. We present the clinical, pathologic, and genetic findings on 6 cases from 4 families, 5 of which were shown to have a novel GRN c.708+6-+9delTGAG mutation.

Original languageEnglish (US)
Pages (from-to)467-473
Number of pages7
JournalJournal of Neuropathology and Experimental Neurology
Volume73
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • Dementia
  • FTLD-TDP
  • Familial FTD
  • GRN
  • Mutation
  • Progranulin

ASJC Scopus subject areas

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

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    Bit-Ivan, E. N., Suh, E., Shim, H. S., Weintraub, S., Hyman, B. T., Arnold, S. E., McCarty-Wood, E., Van Deerlin, V. M., Schneider, J. A., Trojanowski, J. Q., Frosch, M. P., Baker, M. C., Rademakers, R., Mesulam, M., & Bigio, E. H. (2014). A novel GRN mutation (GRN c.708+6-+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: Clinicopathologic report of 6 cases. Journal of Neuropathology and Experimental Neurology, 73(5), 467-473. https://doi.org/10.1097/NEN.0000000000000070