Gigaxonin mutation analysis in patients with NIFID.
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.
Dequen
Florence
F
CHUL Research Centre and Department of Anatomy and Physiology, Laval University, Québec, Canada.
Cairns
Nigel J
NJ
Bigio
Eileen H
EH
Julien
Jean-Pierre
JP
D000818:Animals; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007382:Intermediate Filaments / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008817:Mice, Mutant Strains; D010641:Phenotype
D003598:Cytoskeletal Proteins; C416508:GAN protein, human; C501171:Gan protein, mouse