title: Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases.
abstract: BACKGROUND
  Sporadic, inherited and acquired prion diseases show distinct histological patterns of abnormal prion protein (PrP) deposits. Many of the inherited prion diseases show striking histological patterns, which often associate with specific mutations. Most reports have focused on the pattern of PrP deposition in the cortical or cerebellar grey matter.
  
  
  RESULTS
  We observed that the subcortical white matter in inherited prion diseases frequently contained filamentous depositions of abnormal PrP, and we have analysed by immunohistochemistry, immunofluorescence and electron microscopy 35 cases of inherited prion disease seen at the UK National Prion Clinic. We report here that filamentous PrP is abundantly deposited in myelinated fibres in inherited prion diseases, in particular in those with N-terminal mutations.
  
  
  CONCLUSIONS
  It is possible that the presence of filamentous PrP is related to the pathogenesis of inherited forms, which is different from those sporadic and acquired forms.
authors.affiliation: Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. s.brandner@ucl.ac.uk.
authors.forename: Lilla
authors.initials: L
authors.lastname: Reiniger
authors.forename: Ilaria
authors.initials: I
authors.lastname: Mirabile
authors.forename: Ana
authors.initials: A
authors.lastname: Lukic
authors.forename: Jonathan Df
authors.initials: JD
authors.lastname: Wadsworth
authors.forename: Jacqueline M
authors.initials: JM
authors.lastname: Linehan
authors.forename: Michael
authors.initials: M
authors.lastname: Groves
authors.forename: Jessica
authors.initials: J
authors.lastname: Lowe
authors.forename: Ronald
authors.initials: R
authors.lastname: Druyeh
authors.forename: Peter
authors.initials: P
authors.lastname: Rudge
authors.forename: John
authors.initials: J
authors.lastname: Collinge
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.forename: Sebastian
authors.initials: S
authors.lastname: Brandner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism / Q000648:ultrastructure; D007562:Creutzfeldt-Jakob Syndrome / Q000378:metabolism / Q000473:pathology; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018620:PrPSc Proteins / Q000235:genetics / Q000378:metabolism*; D017096:Prion Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics / Q000378:metabolism; D066127:White Matter / Q000378:metabolism* / Q000648:ultrastructure*
chemical_list: C512656:PRNP protein, human; D018620:PrPSc Proteins; D000072002:Prion Proteins; D011328:Prions