title: Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degeneration.
abstract: BACKGROUND
  Frontotemporal lobar degeneration comprises a group of diseases with clinical presentations and underlying histopathologies that overlap. Familial disease occurs in up to 50% of frontotemporal lobar degeneration cases. One of several underlying histopathological abnormalities is of ubiquitin-positive tau-negative inclusions, similar to those in motor neuron disease.
  
  
  OBJECTIVE
  To compare clinical features of familial and sporadic cases in this pathological subgroup.
  
  
  METHODS
  Case note review of dementia patients with ubiquitin-positive tau-negative inclusion pathological abnormalities proven by autopsy.
  
  
  METHODS
  United Kingdom tertiary referral center.
  
  
  METHODS
  Analysis of clinical features.
  
  
  RESULTS
  Eleven familial cases (autosomal dominant) and 18 sporadic cases were identified. Most familial case patients presented with behavioral disturbances similar to those seen in sporadic behavioral cases. Semantic dementia was only seen in sporadic cases. Atypical features occurred in a minority. Sporadic and familial behavioral cases showed no differences in age at onset or disease duration. Neuropsychological test results revealed frontal or temporal deficits in most, but unexpected early parietal deficits in 1.
  
  
  CONCLUSIONS
  Behavioral features in familial and sporadic cases were similar, but semantic dementia only occurred in sporadic cases. Diagnostic confusion with Alzheimer disease and corticobasal degeneration occurred in some cases.
authors: Dementia Research Centre, Institute of Neurology, University College London, England.
authors: Alison K
authors: AK
authors: Godbolt
authors: Keith A
authors: KA
authors: Josephs
authors: Tamas
authors: T
authors: Revesz
authors: Elizabeth K
authors: EK
authors: Warrington
authors: Peter
authors: P
authors: Lantos
authors: Andrew
authors: A
authors: King
authors: Nick C
authors: NC
authors: Fox
authors: Safa
authors: S
authors: Al Sarraj
authors: Janice
authors: J
authors: Holton
authors: Lisa
authors: L
authors: Cipolotti
authors: M Nadeem
authors: MN
authors: Khan
authors: Martin N
authors: MN
authors: Rossor
mesh_terms: D017668:Age of Onset; D001344:Autopsy; D003072:Cognition Disorders / Q000209:etiology*; D003704:Dementia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000209:etiology; D008297:Male; D008569:Memory Disorders / Q000209:etiology*; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D012189:Retrospective Studies; D012660:Semantics; D025801:Ubiquitin / Q000032:analysis*; D016875:tau Proteins
chemical_list: D025801:Ubiquitin; D016875:tau Proteins