title: Three sib-pairs of autopsy-confirmed progressive supranuclear palsy.
abstract: OBJECTIVE
  To describe the clinical, pathological, and genetic features of three sib-pairs of pathologically-confirmed progressive supranuclear palsy (PSP).
  
  
  METHODS
  We searched the Mayo Clinic neurodegenerative diseases brain bank for cases of PSP in which more than one family member had pathologically-confirmed PSP. Clinical and pathological data were reviewed and all individuals were screened for mutations in MAPT, by sequencing exons 1, 7, and 9-13.
  
  
  RESULTS
  We identified three sib-pairs of pathologically-confirmed PSP. Sufficient information was available to suggest an autosomal dominant inheritance in two. The mean age at symptom onset was 41 years in one pair, and 76 years in the other two. The young onset pair had a p.S285R mutation in MAPT, but no mutations were detected in the other two.
  
  
  CONCLUSIONS
  All sib-pairs had typical pathological features of PSP; however, the age at onset of the sib-pair with MAPT mutation was significantly younger than sporadic PSP. Future studies are warranted to identify a possible genetic basis for PSP associated with late onset and typical PSP pathology.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Department of Neuropathology Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Fujioka
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Monica Y
authors.initials: MY
authors.lastname: Sanchez Contreras
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Audrey J
authors.initials: AJ
authors.lastname: Strongosky
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Kotaro
authors.initials: K
authors.lastname: Ogaki
authors.affiliation: Tri State Mountain Neurology, Johnson City, TN, USA.
authors.forename: Nathaniel Robb
authors.initials: NR
authors.lastname: Whaley
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Pawel M
authors.initials: PM
authors.lastname: Tacik
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Jay A
authors.initials: JA
authors.lastname: van Gerpen
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.zbigniew@mayo.edu.
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.affiliation: Department of Neuropathology Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
mesh_terms: D000328:Adult; D000368:Aged; D001344:Autopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D035781:Siblings; D013494:Supranuclear Palsy, Progressive / Q000235:genetics* / Q000473:pathology*; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: MAPT; Progressive supranuclear palsy; p.S285R; tau pathology