Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

Justus C. Dächsel, Owen A. Ross, Ignacio F. Mata, Jennifer Kachergus, Mathias Toft, Ashley Cannon, Matt Baker, Jennifer Adamson, Mike Hutton, Dennis W. Dickson, Matthew J. Farrer

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.

Original languageEnglish (US)
Pages (from-to)601-606
Number of pages6
JournalActa neuropathologica
Volume113
Issue number5
DOIs
StatePublished - May 1 2007

Keywords

  • Frontotemporal dementia
  • LRRK2
  • MAPT
  • Progranulin

ASJC Scopus subject areas

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

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    Dächsel, J. C., Ross, O. A., Mata, I. F., Kachergus, J., Toft, M., Cannon, A., Baker, M., Adamson, J., Hutton, M., Dickson, D. W., & Farrer, M. J. (2007). Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions. Acta neuropathologica, 113(5), 601-606. https://doi.org/10.1007/s00401-006-0178-1