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Gigaxonin mutation analysis in patients with NIFID
Florence Dequen1, Nigel J Cairns, Eileen H Bigio
1CHUL Research Centre and Department of Anatomy and Physiology, Laval University, Québec, Canada.
Neurobiology of Aging
|September 29, 2009
Summary
Neuronal intermediate filament inclusion disease (NIFID) involves frontotemporal dementia and motor signs. Researchers investigated Gigaxonin (GAN) as a potential genetic cause but found no GAN variants in NIFID patients.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Neuronal intermediate filament inclusion disease (NIFID) is a form of frontotemporal lobar degeneration (FTLD) presenting with cognitive and motor deficits.
- Histologically, NIFID is defined by neuronal cytoplasmic inclusions (NCIs) containing α-internexin and other intermediate filament proteins.
Purpose of the Study:
- To investigate the potential role of the Gigaxonin (GAN) gene in the pathogenesis of NIFID.
- To determine if mutations in the GAN gene are associated with NIFID in affected patients.
Main Methods:
- Immunohistochemical comparison of NCIs in NIFID patients and Gan(Δex1/Δex1) mouse models.
- Mutation analysis of the GAN gene in DNA samples from well-characterized NIFID patients.
Main Results:
- Immunohistochemical analysis revealed similar NCI profiles between NIFID and Gan(Δex1/Δex1) mice.
- No disease-associated variants in the GAN gene were identified in the NIFID patient cohort.
Conclusions:
- Despite similarities in NCIs between NIFID and GAN-deficient mice, GAN is not a causative gene for NIFID.
- The underlying genetic cause of NIFID remains to be elucidated.
