title: Progranulin mutations as risk factors for Alzheimer disease.
abstract: OBJECTIVE
  Mutations in the progranulin gene are known to cause diverse clinical syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with progranulin gene mutations and evidence of Alzheimer disease (AD) pathology. We also conducted a literature review.
  
  
  METHODS
  This study focused on case reports of 2 unrelated patients with progranulin mutations at the University of California, San Francisco, Memory and Aging Center. One patient presented at age 65 years with a clinical syndrome suggestive of AD and showed evidence of amyloid aggregation on positron emission tomography. Another patient presented at age 54 years with logopenic progressive aphasia and, at autopsy, showed both frontotemporal lobar degeneration with TDP-43 inclusions and AD.
  
  
  CONCLUSIONS
  In addition to autosomal-dominant frontotemporal lobar degeneration, mutations in the progranulin gene may be a risk factor for AD clinical phenotypes and neuropathology.
authors.affiliation: Department of Neurology, University of California, San Francisco, CA 94158, USA. dperry@memory.ucsf.edu
authors.forename: David C
authors.initials: DC
authors.lastname: Perry
authors.forename: Manja
authors.initials: M
authors.lastname: Lehmann
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Yokoyama
authors.forename: Anna
authors.initials: A
authors.lastname: Karydas
authors.forename: Jason Jiyong
authors.initials: JJ
authors.lastname: Lee
authors.forename: Giovanni
authors.initials: G
authors.lastname: Coppola
authors.forename: Lea T
authors.initials: LT
authors.lastname: Grinberg
authors.forename: Dan
authors.initials: D
authors.lastname: Geschwind
authors.forename: William W
authors.initials: WW
authors.lastname: Seeley
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Miller
authors.forename: Howard
authors.initials: H
authors.lastname: Rosen
authors.forename: Gil
authors.initials: G
authors.lastname: Rabinovici
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000077153:Progranulins; D012307:Risk Factors
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins