Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

Acta Neuropathol. 2009 Nov;118(5):605-16. doi: 10.1007/s00401-009-0581-5. Epub 2009 Aug 9.

Abstract

Neuronal intermediate filament inclusion disease (NIFID) is an uncommon neurodegenerative condition that typically presents as early-onset, sporadic frontotemporal dementia (FTD), associated with a pyramidal and/or extrapyramidal movement disorder. The neuropathology is characterized by frontotemporal lobar degeneration with neuronal inclusions that are immunoreactive for all class IV intermediate filaments (IF), light, medium and heavy neurofilament subunits and alpha-internexin. However, not all the inclusions in NIFID are IF-positive and the primary molecular defect remains uncertain. Mutations in the gene encoding the fused in sarcoma (FUS) protein have recently been identified as a cause of familial amyotrophic lateral sclerosis (ALS). Because of the recognized clinical, genetic and pathological overlap between FTD and ALS, we investigated the possible role of FUS in NIFID. We found abnormal intracellular accumulation of FUS to be a consistent feature of our NIFID cases (n = 5). More neuronal inclusions were labeled using FUS immunohistochemistry than for IF. Several types of inclusions were consistently FUS-positive but IF-negative, including neuronal intranuclear inclusions and glial cytoplasmic inclusions. Double-label immunofluorescence confirmed that many cells had only FUS-positive inclusions and that all cells with IF-positive inclusions also contained pathological FUS. No mutation in the FUS gene was identified in a single case with DNA available. These findings suggest that FUS may play an important role in the pathogenesis of NIFID.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Aged
  • Autophagy-Related Proteins
  • Carrier Proteins / metabolism
  • Cell Cycle Proteins / metabolism
  • Cytomegalovirus Infections / genetics
  • Cytomegalovirus Infections / metabolism*
  • Cytomegalovirus Infections / pathology*
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Intermediate Filaments / genetics
  • Intermediate Filaments / metabolism*
  • Intranuclear Inclusion Bodies / metabolism
  • Male
  • Middle Aged
  • Neurons / pathology*
  • RNA, Messenger / metabolism
  • RNA-Binding Protein FUS / genetics
  • RNA-Binding Protein FUS / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Proteins
  • Carrier Proteins
  • Cell Cycle Proteins
  • RNA, Messenger
  • RNA-Binding Protein FUS
  • UBQLN1 protein, human