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    Neurobiol Aging. 2011 Aug;32(8):1528-9. Epub 2009 Sep 26.

    Gigaxonin mutation analysis in patients with NIFID.

    Dequen F, Cairns NJ, Bigio EH, Julien JP.

    Source

    CHUL Research Centre and Department of Anatomy and Physiology, Laval University, Québec, Canada.

    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.

    Copyright © 2009 Elsevier Inc. All rights reserved.

    PMID:
    19782434
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2987523
    Free PMC Article

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