Gene Mutation Linked With Pick’s Disease

An Italian-led study identified a new gene mutation that is linked with frontotemporal dementia, also known as Pick’s disease.

Frontotemporal dementia involves progressive shrinking of the brain areas that control behavior and language, producing language problems and personality changes.

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 Dr. Amalia Bruni of the Regional Neurogenetic Center in Lamezia Terme, Italy.

Bruni, co-author Ekaterina Rogaeva of the University of Toronto and colleagues discovered a new mutation in the gene named progranulin in an extended family in southern Italy. The genealogy of the family was reconstructed for 15 generations, back to the 16th century. Researchers found 36 members of the family suffered from frontotemporal dementia.

The mutation identified in the study is in a gene on chromosome 17 that 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.

The research is reported in the journal Neurology.