Journal of Neural Transmission

, 114:1051

Late-onset frontotemporal dementia associated with a novel PGRN mutation

  • A. Lladó
  • R. Sánchez-Valle
  • R. Reñé
  • M. Ezquerra
  • M. J. Rey
  • E. Tolosa
  • I. Ferrer
  • J. L. Molinuevo
Short communication

DOI: 10.1007/s00702-007-0716-6

Cite this article as:
Lladó, A., Sánchez-Valle, R., Reñé, R. et al. J Neural Transm (2007) 114: 1051. doi:10.1007/s00702-007-0716-6

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

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • A. Lladó
    • 1
  • R. Sánchez-Valle
    • 1
  • R. Reñé
    • 2
  • M. Ezquerra
    • 3
  • M. J. Rey
    • 4
  • E. Tolosa
    • 3
  • I. Ferrer
    • 4
  • J. L. Molinuevo
    • 1
  1. 1.Alzheimer’s Disease and Cognitive Disorders Unit, Neurology ServiceHospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)BarcelonaSpain
  2. 2.Unitat de Diagnòstic i Tractament de les Demències, Servei de NeurologiaHospital Universitari de BellvitgeBarcelonaSpain
  3. 3.Parkinson’s Disease and Movement Disorders Unit, Neurology ServiceHospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS)BarcelonaSpain
  4. 4.Brain BankUniversity of Barcelona/Hospital ClínicBarcelonaSpain