Case Report

Acta Neuropathologica

, Volume 113, Issue 5, pp 601-606

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

  • Justus C. DächselAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Owen A. RossAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine Email author 
  • , Ignacio F. MataAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Jennifer KachergusAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Mathias ToftAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Ashley CannonAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Matt BakerAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Jennifer AdamsonAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
  • , Mike HuttonAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine
    • , Dennis W. DicksonAffiliated withDepartment of Pathology, Mayo Clinic College of Medicine
    • , Matthew J. FarrerAffiliated withDepartment of Neuroscience, Mayo Clinic College of Medicine

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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