title: Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions.
abstract: We report a new disease, dementia with neurofilament inclusions, characterized clinically by early-onset dementia with frontal lobe signs, focal atrophy of the frontal and temporal lobes, and microscopically by the presence in many brain regions of intraneuronal, cytoplasmic, neurofilament inclusions. The neuronal inclusions are immunoreactive to all three molecular weight neurofilament subunits: heavy (NF-H), light, and medium subunits, including the phosphorylated and non-phosphorylated forms of NF-H. Prion protein and beta-amyloid deposits were absent. The inclusions do not contain tau or alpha-synuclein protein aggregates known to characterize many neurodegenerative disorders. In addition to delineating a new disease entity, the identification of intraneuronal, cytoplasmic, neurofilament inclusions extends the molecular classification of neurodegenerative diseases and implicates new mechanisms of neurodegeneration in diseases affecting the human brain.
authors.affiliation: Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia 19104-4283, USA. nigelcairns@hotmail.com
authors.forename: Nigel J
authors.initials: NJ
authors.lastname: Cairns
authors.forename: Robert H
authors.initials: RH
authors.lastname: Perry
authors.forename: Evelyn
authors.initials: E
authors.lastname: Jaros
authors.forename: David
authors.initials: D
authors.lastname: Burn
authors.forename: Ian G
authors.initials: IG
authors.lastname: McKeith
authors.forename: James S
authors.initials: JS
authors.lastname: Lowe
authors.forename: Janice
authors.initials: J
authors.lastname: Holton
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
authors.forename: Kari
authors.initials: K
authors.lastname: Skullerud
authors.forename: Charles
authors.initials: C
authors.lastname: Duyckaerts
authors.forename: Felix F
authors.initials: FF
authors.lastname: Cruz-Sanchez
authors.forename: Peter L
authors.initials: PL
authors.lastname: Lantos
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000145:classification / Q000473:pathology* / Q000523:psychology; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000737:chemistry / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000032:analysis*; D010361:Patients
chemical_list: D016900:Neurofilament Proteins