title: Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia.
abstract: OBJECTIVE
  To examine the relationship between progranulin gene mutation and apraxic agraphia.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Tertiary care medical center.
  
  
  METHODS
  A 49-year-old right-handed woman who presented with apraxic agraphia that progressed into the corticobasal syndrome.
  
  
  RESULTS
  This woman had no family history of neurodegenerative disease. Magnetic resonance imaging and fluorodeoxyglucose positron emission tomographic scans of her head revealed significant asymmetric frontoparietal abnormalities, in keeping with the clinical diagnosis of corticobasal syndrome. Progranulin gene sequencing identified a 4-base pair deletion.
  
  
  CONCLUSIONS
  Patients presenting with early apraxic agraphia, a progressive disease course, and asymmetric frontoparietal abnormalities on brain scans should be considered for progranulin gene testing despite negative family history.
authors.affiliation: Department of Psychiatry, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA.
authors.forename: Victoria
authors.initials: V
authors.lastname: Passov
authors.forename: Ralitza H
authors.initials: RH
authors.lastname: Gavrilova
authors.forename: Edythe
authors.initials: E
authors.lastname: Strand
authors.forename: Jane H
authors.initials: JH
authors.lastname: Cerhan
authors.forename: Keith A
authors.initials: KA
authors.lastname: Josephs
mesh_terms: D000381:Agraphia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology; D001921:Brain / Q000473:pathology; D005260:Female; D019788:Fluorodeoxyglucose F18; D007839:Functional Laterality / Q000502:physiology; D006236:Handwriting; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D009483:Neuropsychological Tests; D049268:Positron-Emission Tomography; D000077153:Progranulins; D019275:Radiopharmaceuticals
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18