title: Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.
abstract: BACKGROUND
  Patients with frontotemporal dementia due to mutation of progranulin may have a distinct phenotype.
  
  
  OBJECTIVE
  To identify distinct clinical and pathologic features of patients with frontotemporal dementia who have mutations of progranulin (GRN).
  
  
  METHODS
  Retrospective clinical-pathologic study.
  
  
  METHODS
  Academic medical center.
  
  
  METHODS
  Twenty-eight patients with frontotemporal dementia, including 9 with GRN mutations (4 autopsy cases and 5 with only clinical information) and 19 with the identical pathologic diagnosis--frontotemporal lobar degeneration with ubiquitin-positive and tau-negative inclusions (FTLD-U)--and no GRN mutations.
  
  
  METHODS
  Demographic, symptom, neuropsychological, and autopsy characteristics.
  
  
  RESULTS
  Patients with and without a GRN mutation have similar demographic features, although family history is significantly more common in patients with frontotemporal dementia and a GRN mutation. Both patient groups have frequent social and personality complaints. Neuropsychological evaluation reveals a significant recognition memory deficit in patients with a GRN mutation but a significant language deficit only in patients without a GRN mutation. At autopsy, the semiquantitative burden of ubiquitin abnormality is relatively modest in both groups of patients.
  
  
  CONCLUSIONS
  Patients with a GRN mutation differ clinically from those with the same pathologic diagnosis but no GRN mutation.
authors: Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4283, USA.
authors: Vivianna M
authors: VM
authors: Van Deerlin
authors: Elisabeth McCarty
authors: EM
authors: Wood
authors: Peachie
authors: P
authors: Moore
authors: Wuxing
authors: W
authors: Yuan
authors: Mark S
authors: MS
authors: Forman
authors: Christopher M
authors: CM
authors: Clark
authors: Manuela
authors: M
authors: Neumann
authors: Linda K
authors: LK
authors: Kwong
authors: John Q
authors: JQ
authors: Trojanowski
authors: Virginia M-Y
authors: VM
authors: Lee
authors: Murray
authors: M
authors: Grossman
mesh_terms: D000368:Aged; D001921:Brain / Q000378:metabolism / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000523:psychology*; D005260:Female; D005625:Frontal Lobe; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007398:Interpersonal Relations; D007806:Language Disorders / Q000209:etiology; D008297:Male; D008569:Memory Disorders / Q000209:etiology / Q000523:psychology; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010554:Personality Disorders / Q000209:etiology; D000077153:Progranulins; D021641:Recognition, Psychology; D012189:Retrospective Studies; D013702:Temporal Lobe; D025801:Ubiquitin / Q000378:metabolism
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D025801:Ubiquitin