New clues for the understanding of dementia

Researchers at the Medical Research Council MRC Prion Unit and the Department of Neurodegenerative Disease at the Institute of Neurology, University College London - in collaboration with groups from Copenhagen, Aarhus, Lund and Cambridge - have identified a gene that, when mutated, causes an early onset dementia.

The discovery of the gene provides clues for the understanding of dementia and other forms of neurodegenerative disease.

The investigators studied a large family spanning 6 generations that is affected by an inherited form of early onset dementia, similar to Alzheimer's disease, called frontotemporal dementia (FTD). FTD is the second most common cause of presenile dementia. Typically the dementia strikes in the 50s and 60s and an affected parent has a 50% chance of passing on the mutated gene to their children.

FTD results in changes to behaviour and personality and causes difficulties with speech and comprehension. This genetic study of the family led to the identification of an alteration in a gene, called CHMP2b. The same gene was also found to be mutated in another FTD patient entirely unrelated to this family.

Professor John Collinge, Director of the MRC Prion Unit and Professor Elizabeth Fisher (UCL) the joint leaders of the project said: "The identification of the gene throws light on a new possible mechanism of neurodegeneration, and brings us closer to new therapies and new ways in which we can prevent the onset and progression of dementia".

The study appears online 24 July 2005 in Nature Genetics


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