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2005 Grant - van Broeckhoven
Frontotemporal Dementia With Ubiquitin-Positive Neuronal Inclusions
Christine van Broeckhoven, Ph.D., D.Sc.
Flanders Interuniversity Institute for Biotechnology
University of Antwerp
2005 Zenith Fellows Award
Project focus: Identification of the genetic mutation causing frontotemporal dementia and related diseasesFrontotemporal dementia is a neurodegenerative disease characterized by the loss of cells in the front and side regions of the brain. The symptoms include dramatic changes in personality, a loss of social skills, and impairment in language, memory and thinking. Cells in the affected region of the brain have inclusions, or abnormal structures.
These inclusions may be made of a number of abnormally altered proteins, including the proteins tau and ubiquitin. Mutations in the tau gene have been linked to cases of frontotemporal dementia in which the inclusions include tau. In some families with the disease, however, scientists have identified inclusions that have ubiquitin but no tau. Genetic associations in these cases are unknown.
Christine van Broeckhoven, Ph.D., D.Sc., and colleagues are collecting DNA samples from families in which people with frontotemporal dementia have such tau-negative/ubiquitin-positive inclusions. They will focus on chromosome 17, where suspect regions of genetic code have been identified in previous studies. Identification of a genetic mutation associated with the ubiquitin-positive inclusions may contribute to a better understanding of processes that lead to neurodegeneration in many forms of frontotemporal dementia and other related diseases.