Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation

J Alzheimers Dis. 2013;37(2):335-42. doi: 10.3233/JAD-130146.

Abstract

The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN) mutations is known to be heterogeneous. We present a patient with corticobasal syndrome and a family with progressive aphasia and behavioral features who were found to have the same p.Gln257Profs*27 mutation. These cases depict the variability of GRN mutation carriers regarding clinical presentation and age of onset. In addition to giving a detailed report of a GRN mutation, we highlight the importance of searching for the presence of GRN mutations in selected sporadic cases and suggest a broadening of GRN genetic screening to better understand the clinical spectrum of these mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology
  • Glutamine / genetics
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Magnetic Resonance Imaging
  • Mental Status Schedule
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Progranulins
  • Proline / genetics

Substances

  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins
  • Glutamine
  • Proline