title: Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.
abstract: BACKGROUND
  Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are neurodegenerative tauopathies. Sporadic and familial cases of PSP and CBD have been noted, but both have not been reported in a single family.
  
  
  OBJECTIVE
  To describe the clinical, oculomotor, balance, functional imaging, histopathologic, and genetic studies in a family with CBD and PSP.
  
  
  METHODS
  A report of the clinical and pathological features in a familial tauopathy.
  
  
  METHODS
  University of Minnesota. Patients We evaluated 2 siblings and clinically assessed 20 additional family members.
  
  
  METHODS
  Demonstration of salient features in deceased and living family members.
  
  
  RESULTS
  Histopathologically confirmed CBD in one sibling and PSP in another deceased sibling were demonstrated; both had clinical features of corticobasal syndrome. In addition, 3 siblings had probable PSP by clinical criteria. Genetic studies of 4 affected family members demonstrated the H1/H1 haplotype but did not reveal pathogenic tau mutations. The family history revealed consanguinity.
  
  
  CONCLUSIONS
  This is the first report, to our knowledge, of CBD and PSP in 2 individuals in a single family who presented with corticobasal syndrome and had other affected siblings with clinical PSP. Despite clinical and pathologic heterogeneity, a unifying genetic etiology appears likely in this familial tauopathy.
authors.affiliation: Department of Neurology, University of Minnesota, MN 55455, USA. tuite002@umn.edu
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Tuite
authors.forename: H Brent
authors.initials: HB
authors.lastname: Clark
authors.forename: Catherine
authors.initials: C
authors.lastname: Bergeron
authors.forename: Matthew
authors.initials: M
authors.lastname: Bower
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: Vesselina
authors.initials: V
authors.lastname: Mateva
authors.forename: John
authors.initials: J
authors.lastname: Anderson
authors.forename: David S
authors.initials: DS
authors.lastname: Knopman
mesh_terms: D001480:Basal Ganglia Diseases / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000378:metabolism; D013494:Supranuclear Palsy, Progressive / Q000473:pathology*; D024801:Tauopathies / Q000235:genetics / Q000503:physiopathology*; D016875:tau Proteins / Q000378:metabolism*
chemical_list: D016900:Neurofilament Proteins; D016875:tau Proteins