| First Author | Dequen F | Year | 2011 |
| Journal | Neurobiol Aging | Volume | 32 |
| Issue | 8 | Pages | 1528-9 |
| PubMed ID | 19782434 | Mgi Jnum | J:305245 |
| Mgi Id | MGI:6708698 | Doi | 10.1016/j.neurobiolaging.2009.08.018 |
| Citation | Dequen F, et al. (2011) Gigaxonin mutation analysis in patients with NIFID. Neurobiol Aging 32(8):1528-9 |
| abstractText | 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 alpha-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(Deltaex1/Deltaex1) 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(Deltaex1/Deltaex1) mice were immunohistochemically similar, no GAN variant was identified in DNA obtained from well-characterized cases of NIFID. |
