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

38 Citations (Scopus)

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 2007

Fingerprint

Frontotemporal Lobar Degeneration
Ubiquitin
Leucine
Phosphotransferases
Frontotemporal Dementia
Dementia
Mutation
Intranuclear Inclusion Bodies
Dystonia
Parkinsonian Disorders
Tremor
Amino Acid Substitution
Neurodegenerative Diseases
Genes
Proteins

Keywords

  • Frontotemporal dementia
  • LRRK2
  • MAPT
  • Progranulin

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions. / Dächsel, Justus C.; Ross, Owen A; Mata, Ignacio F.; Kachergus, Jennifer; Toft, Mathias; Cannon, Ashley; Baker, Matt; Adamson, Jennifer; Hutton, Mike; Dickson, Dennis W; Farrer, Matthew J.

In: Acta Neuropathologica, Vol. 113, No. 5, 05.2007, p. 601-606.

Research output: Contribution to journalArticle

Dächsel, JC, Ross, OA, Mata, IF, Kachergus, J, Toft, M, Cannon, A, Baker, M, Adamson, J, Hutton, M, Dickson, DW & Farrer, MJ 2007, 'Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions', Acta Neuropathologica, vol. 113, no. 5, pp. 601-606. https://doi.org/10.1007/s00401-006-0178-1
Dächsel, Justus C. ; Ross, Owen A ; Mata, Ignacio F. ; Kachergus, Jennifer ; Toft, Mathias ; Cannon, Ashley ; Baker, Matt ; Adamson, Jennifer ; Hutton, Mike ; Dickson, Dennis W ; Farrer, Matthew J. / Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions. In: Acta Neuropathologica. 2007 ; Vol. 113, No. 5. pp. 601-606.
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