title: Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene.
abstract: OBJECTIVE
  To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1).
  
  
  METHODS
  Case series.
  
  
  METHODS
  A large British kindred (DRC255) with a PGRN mutation was assessed. Affected individuals presented with a mean age of 57.8 years (range, 54-67 years) and a mean disease duration of 6.1 years (range, 2-11 years).
  
  
  RESULTS
  All patients exhibited a clinical and radiologic phenotype compatible with frontotemporal lobar degeneration based on current consensus criteria. However, unlike sporadic frontotemporal lobar degeneration, parietal deficits, consisting of dyscalculia, visuoperceptual /visuospatial dysfunction, and/or limb apraxia, were a common feature, and brain imaging showed posterior extension of frontotemporal atrophy to involve the parietal lobes. Other common clinical features included language output impairment with either dynamic aphasia or nonfluent aphasia and a behavioral syndrome dominated by apathy.
  
  
  CONCLUSIONS
  We suggest that parietal deficits may be a prominent feature of PGRN mutations and that these deficits may be caused by disruption of frontoparietal functional pathways.
authors.affiliation: Dementia Research Centre, Institute of Neurology, University College London, London, England.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: Jason D
authors.initials: JD
authors.lastname: Warren
authors.forename: Rohani
authors.initials: R
authors.lastname: Omar
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.forename: Jonathan
authors.initials: J
authors.lastname: Beck
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
authors.forename: Janice
authors.initials: J
authors.lastname: Holton
authors.forename: John M
authors.initials: JM
authors.lastname: Stevens
authors.forename: Safa
authors.initials: S
authors.lastname: Al-Sarraj
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Nick C
authors.initials: NC
authors.lastname: Fox
authors.forename: John
authors.initials: J
authors.lastname: Collinge
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Warrington
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D000368:Aged; D001039:Aphasia, Broca / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001072:Apraxias / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001284:Atrophy; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D005625:Frontal Lobe / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008609:Mental Status Schedule; D008875:Middle Aged; D009042:Motivation; D009434:Neural Pathways / Q000503:physiopathology; D009483:Neuropsychological Tests; D010296:Parietal Lobe / Q000473:pathology / Q000503:physiopathology*; D010375:Pedigree; D010468:Perceptual Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D013702:Temporal Lobe / Q000473:pathology / Q000503:physiopathology; D014796:Visual Perception / Q000235:genetics