Acta Neuropathologica

, Volume 113, Issue 5, pp 601–606

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

Authors

  • Justus C. Dächsel
    • Department of NeuroscienceMayo Clinic College of Medicine
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Ignacio F. Mata
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Jennifer Kachergus
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Mathias Toft
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Ashley Cannon
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Matt Baker
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Jennifer Adamson
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Mike Hutton
    • Department of NeuroscienceMayo Clinic College of Medicine
  • Dennis W. Dickson
    • Department of PathologyMayo Clinic College of Medicine
  • Matthew J. Farrer
    • Department of NeuroscienceMayo Clinic College of Medicine
Case Report

DOI: 10.1007/s00401-006-0178-1

Cite this article as:
Dächsel, J.C., Ross, O.A., Mata, I.F. et al. Acta Neuropathol (2007) 113: 601. doi:10.1007/s00401-006-0178-1

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.

Keywords

LRRK2MAPTProgranulinFrontotemporal dementia

Copyright information

© Springer-Verlag 2006