Neurofilament inclusion body disease: a new proteinopathy?

Brain. 2003 Oct;126(Pt 10):2291-303. doi: 10.1093/brain/awg231. Epub 2003 Jul 22.

Abstract

We describe four cases of a new clinicopathological entity presenting with either a frontotemporal dementia or corticobasal degeneration syndrome with a mean age of onset of 45 years (range 41-50) characterized pathologically by deposition of neurofilament proteins. All four patients had a rapidly progressive course and have become mute and non-ambulatory, and three have died after mean illness duration of only 3 years (range 2 1/2 -4). Both structural (MRI) and functional (PET and SPECT) imaging demonstrated frontal and temporal lobe and basal ganglia involvement. Gross neuropathological examination in the three deceased patients (the fourth patient, still alive, was diagnosed by brain biopsy) revealed changes affecting predominantly the frontal and temporal cortices, basal ganglia and brainstem. There was superficial linear spongiosis affecting the frontal lobes in all three autopsied patients, and severe caudate atrophy was noted in two of them and demonstrated on MRI in the living patient. On routine staining, there were numerous intracytoplasmic inclusions, which ranged from eosinophilic to basophilic. Some had a clearly defined basophilic margin, while others were granular with a hyaline core. With modified Bielschowsky silver technique, a small number of the inclusions were intensely stained. Inclusions were not labelled with other silver stains. Immuno histochemistry revealed that the inclusions were immunoreactive with antibodies to neurofilament heavy and light chain subunits and to ubiquitin, but not with antibodies to tau and alpha-synuclein. These neurofilament- and ubiquitin-positive inclusions were widespread, specific to neurons and occasionally intranuclear. The frequency and distribution of the inclusions and the silver and immunohistochemical profiles in these four cases is novel and has not been described in detail before. We propose the term neurofilament inclusion body disease for this entity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Basal Ganglia / diagnostic imaging
  • Basal Ganglia / metabolism
  • Basal Ganglia / pathology
  • Brain Stem / diagnostic imaging
  • Brain Stem / metabolism
  • Brain Stem / pathology
  • Dementia / diagnosis
  • Dementia / metabolism
  • Fatal Outcome
  • Female
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / metabolism
  • Frontal Lobe / pathology
  • Humans
  • Immunohistochemistry / methods
  • Inclusion Bodies / chemistry*
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / metabolism*
  • Neurofilament Proteins / analysis*
  • Neurofilament Proteins / metabolism
  • Neurons / chemistry*
  • Radiography
  • Temporal Lobe / diagnostic imaging
  • Temporal Lobe / metabolism
  • Temporal Lobe / pathology
  • Tomography, Emission-Computed
  • Tomography, Emission-Computed, Single-Photon
  • Ubiquitin / analysis
  • Ubiquitin / metabolism

Substances

  • Neurofilament Proteins
  • Ubiquitin