Familial Frontotemporal Dementia and Neuronal Intranuclear Inclusions
Author Information
Author(s): Ian R Mackenzie, Stefanie L Butland, Rebecca S Devon, Emily Dwosh, Howard Feldman, Caroline Lindholm, Scott J Neal, BF Francis Ouellette, Blair R Leavitt
Primary Institution: University of British Columbia
Hypothesis
Is autosomal dominant frontotemporal lobar degeneration with neuronal intranuclear inclusions a polyglutamine expansion disease?
Conclusion
The study finds no evidence that autosomal dominant FTLD-U with NII is a polyglutamine expansion disease.
Supporting Evidence
- No significant polyglutamine-encoding repeat expansions were identified in the DNA from any of the FTLD-U patients.
- NII in the FTLD-U cases showed no 1C2 immunoreactivity.
- Pathological findings support that FTLD-U with NII is not a polyglutamine expansion disorder.
Takeaway
This study looked at families with a type of dementia and found that it is not caused by a specific genetic change that leads to a protein problem.
Methodology
DNA and post mortem brain tissue from affected individuals were analyzed for CAA/CAG trinucleotide expansions and immunohistochemistry was performed on brain tissue.
Limitations
The study involved a small number of families and may not represent all cases of frontotemporal dementia.
Participant Demographics
Six patients from five different families with familial frontotemporal dementia.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website