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Journal of Neural Transmission

, Volume 114, Issue 8, pp 1051-1054

Late-onset frontotemporal dementia associated with a novel PGRN mutation

  • A. LladóAffiliated withAlzheimer’s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)
  • , R. Sánchez-ValleAffiliated withAlzheimer’s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)
  • , R. ReñéAffiliated withUnitat de Diagnòstic i Tractament de les Demències, Servei de Neurologia, Hospital Universitari de Bellvitge
  • , M. EzquerraAffiliated withParkinson’s Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)
  • , M. J. ReyAffiliated withBrain Bank, University of Barcelona/Hospital Clínic
  • , E. TolosaAffiliated withParkinson’s Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)
  • , I. FerrerAffiliated withBrain Bank, University of Barcelona/Hospital Clínic
  • , J. L. MolinuevoAffiliated withAlzheimer’s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)

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Summary

We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with “cat’s eye” shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam. The A303AfsX57 mutation is consistent with a nucleotide deletion in exon 8 (c908delC). This deletion causes a frameshift at codon 303 that introduces a premature termination codon (A303AfsX57).

Keywords: Frontotemporal lobar degeneration, PGRN, ubiquitin, neuronal intranuclear inclusions, frameshift mutation