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| Gigaxonin mutation analysis in patients with NIFID. | | | 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 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. | | | Authors: | Dequen F, Cairns NJ, Bigio EH, Julien JP | | | Journal: | Neurobiology of aging
2009 Sep 24. [Epub ahead of print] | | | PubMed ID: | 19782434 View on Pubmed | | |
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