Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions.
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.
Cairns
Nigel J
NJ
Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia 19104-4283, USA. nigelcairns@hotmail.com
Perry
Robert H
RH
Jaros
Evelyn
E
Burn
David
D
McKeith
Ian G
IG
Lowe
James S
JS
Holton
Janice
J
Rossor
Martin N
MN
Skullerud
Kari
K
Duyckaerts
Charles
C
Cruz-Sanchez
Felix F
FF
Lantos
Peter L
PL
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
D016900:Neurofilament Proteins