Acta Neuropathologica

, Volume 113, Issue 5, pp 601–606

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
Case Report

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

LRRK2 MAPT Progranulin Frontotemporal dementia 

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Justus C. Dächsel
    • 1
  • Owen A. Ross
    • 1
  • Ignacio F. Mata
    • 1
  • Jennifer Kachergus
    • 1
  • Mathias Toft
    • 1
  • Ashley Cannon
    • 1
  • Matt Baker
    • 1
  • Jennifer Adamson
    • 1
  • Mike Hutton
    • 1
  • Dennis W. Dickson
    • 2
  • Matthew J. Farrer
    • 1
  1. 1.Department of NeuroscienceMayo Clinic College of MedicineJacksonvilleUSA
  2. 2.Department of PathologyMayo Clinic College of MedicineJacksonvilleUSA

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