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New gene mutation identified in common type of dementia

ST. PAUL, MN -- Researchers have identified a new gene mutation linked to frontotemporal dementia, according to a study published in the July 10, 2007 issue of Neurology, the medical journal of the American Academy of Neurology.

Frontotemporal dementia, one form of which is known as Picks disease, involves progressive shrinking of the areas of the brain that control behavior and language. Symptoms include language problems and personality changes, often with inappropriate social behavior. Unlike Alzheimers disease dementia, the disease does not affect memory in the early stages. The genetic form of the disease is rare; most cases occur randomly.

We are hopeful that this finding will help us better understand how this disease works and eventually help us develop new therapies for the disease, said study author Amalia Bruni, MD, of the Regional Neurogenetic Centre in Lamezia Terme, Italy.

The researchers discovered a new mutation in the gene named progranulin in an extended family in southern Italy. The genealogy of this family has been reconstructed for 15 generations, going back to the 16th century; 36 family members have had frontotemporal dementia. For this study, DNA tests were conducted on 70 family members, including 13 people with the disease. This is an important result that we pursued for more than 10 years, said study co-author Ekaterina Rogaeva, PhD, with the Centre for Research in Neurodegenerative Diseases at the University of Toronto.

The mutation identified in this study is in a gene on chromosome 17. The mutation leads to a loss of progranulin, a protein growth factor that helps brain cells survive. The mutation causes only half of the protein to be produced, because only one copy of the gene is active. Production of too much progranulin has been associated with cancer.

The new gene mutation was found in nine of those family members with the disease and 10 people who are currently too young to h
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Contact: Angela Babb
ababb@aan.com
651-695-2789
American Academy of Neurology
9-Jul-2007


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