Single gene variant gives clue to dementias

1 December 2011

Scientists have identified a gene that leads to a rare, but fatal neurodegenerative disorder.

Kufs disease strikes in middle-age, causing dementia, motor impairment and early death. There is currently no known treatment

The research team in Washington University School of Medicine in St. Louis sequenced the genomes of two related Kuf’s disease patients and a first-degree relative who did not have the disease. Comparing the results they found variations in the DNAJC5 gene were responsible for Kufs disease.

Kufs disease is a very rare disorder, but the authors of the research believe their discovery could have implications for other, more common, forms of dementia.

What caught our attention is that synaptic dysfunction underlies other forms of dementia,” says first author Bruno Benitez, MD. “We think this Kufs-causing gene may open up a new avenue of research for these kinds of disorders because it may provide new information about dementia in general.”

The research is reported online in the journal PLoS ONE.