Gigaxonin mutation analysis in patients with NIFID

Florence Dequen, Nigel J. Cairns, Eileen H. Bigio, Jean Pierre Julien*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Neuronal intermediate filament inclusion disease (NIFID) is a frontotemporal lobar degeneration (FTLD) characterized by frontotemporal dementia (FTD), pyramidal and extrapyramidal signs. The disease is histologically characterized by the presence of abnormal neuronal cytoplasmic inclusions (NCIs) which contain α-internexin and other neuronal intermediate filament (IF) proteins. Gigaxonin (GAN) is a cytoskeletal regulating protein and the genetic cause of giant axonal neuropathy. Since the immunoreactive profile of NCIs in NIFID is similar to that observed in brain sections from Gan Δex1/Δex1 mice, we speculated that GAN could be a candidate gene causing NIFID. Therefore, we performed a mutation analysis of GAN in NIFID patients. Although the NCIs of NIFID and Gan Δex1/Δex1 mice were immunohistochemically similar, no GAN variant was identified in DNA obtained from well-characterized cases of NIFID.

Original languageEnglish (US)
Pages (from-to)1528-1529
Number of pages2
JournalNeurobiology of Aging
Volume32
Issue number8
DOIs
StatePublished - Aug 2011

Keywords

  • Gigaxonin
  • Mutation analysis
  • Neuronal intermediate filament inclusion disease
  • α-Internexin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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