Gigaxonin mutation analysis in patients with NIFID.

Publication Type:

Journal Article

Authors:

Dequen, Florence; Cairns, Nigel J; Bigio, Eileen H; J-P Julien

Source:

Neurobiol Aging, Volume 32, Issue 8, p.1528-9 (2011)

Keywords:

Animals, Cytoskeletal Proteins, Disease Models, Animal, Frontotemporal Lobar Degeneration, Humans, Intermediate Filaments, Mice, Mice, Mutant Strains, Phenotype

Abstract:

<p>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.</p>